¿Qué es el Síndrome X Frágil?
¿QUÉ ES EL SÍNDROME X FRÁGIL? El síndrome de X frágil (FXS) es la causa hereditaria más común de retraso mental con aproximadamente 1 de…
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Las tecnologías más avanzadas para diagnóstico genético.
La respuesta está en sus genes
Panel de Secuenciación NGS
En GENOLIFE contamos con un gran número de paneles de secuenciación NGS (Next Generation Sequencing), para difenetes cuadros clínicos.
Estos estudios se recomiendan para la identificación puntual de mutaciones responsables del cuadro clínico del paciente.
Todos nuestros estudios de NGS Incluyen el panel de genes recomendados por la American College of Medical Genetics and Genomics (ACMG).
Panel Epilepsias más ADNFarma
Se analizan 883 genes asociados a mas de 1,369 condiciones asociadas a la epilesia
Este estudio incluye un estudio de farmacogenética, ADNFarma.
Este estudio esta enfocado en identificar si las convulsiones es de origen genético y tener un diagnóstico puntual. Adicional se agrega un estudio de farmacogenética con el proposito que el paciente no solo obtenga un diagnóstico sino una guia terapeutica para un mejor control de esta patología.
$18,100 MN
Panel de genes Epilepsia
Tabla de genes y condiciones
| GENES | CONDICIONES |
| AARS1 (16q22.1) | Aciduria 3-metilglutacónica con sordera, encefalopatía y síndrome tipo Leigh |
| AARS2 (6p21.1) | Aciduria 3-metilglutacónica tipo 1 |
| ABAT (16p13.2) | Aciduria 3-metilglutacónica tipo 9 |
| ABCC8 (11p15.1) | Acondroplasia |
| ABCD1 (Xq28) | Acrocianosis |
| ABCD3 (1p21.3) | Acroqueratosis verruciforme de Hopf |
| ACAD9 (3q21.3) | Adicción al tabaco, susceptibilidad al mismo |
| ACADM (1p31.1) | Adrenoleucodistrofia |
| ACADS (12q24.31) | AICA-ribosiduria |
| ACADVL (17p13.1) | ALG1: trastorno congénito de la glicosilación |
| ACOX1 (17q25.1) | ALG11 – trastorno congénito de la glicosilación |
| ACTL6B (7q22.1) | ALG12: trastorno congénito de la glicosilación |
| ACY1 (3p21.2) | ALG2: trastorno congénito de la glicosilación |
| ADA (20q13.12) | ALG3: trastorno congénito de la glicosilación |
| ADAM22 (7q21.12) | ALG6-trastorno congénito de la glicosilación 1C |
| ADAMTS10 (19p13.2) | Alucinación visual |
| ADAMTSL2 (9q34.2) | Amaurosis fugaz |
| ADAR (1q21.3) | Amelocerebrohypohidrotic syndrome |
| ADGRG1 (16q21) | Aminoacylase 1 deficiency |
| ADSL (22q13.1) | Amish lethal microcephaly |
| AFF3 (2q11.2) | Anemia aplásica |
| AFG2A (4q28.1) | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| AFG3L2 (18p11.21) | Angelman syndrome |
| AGA (4q34.3) | Anormalidad de la voz |
| AGK (7q34) | Anormalidad del ojo |
| AGPS (2q31.2) | Anormalidad del sistema nervioso autónomo |
| AIFM1 (Xq26.1) | Arginase deficiency |
| AIMP1 (4q24) | Arginine:glycine amidinotransferase deficiency |
| AIMP2 (7p22.1) |
Artrogriposis, paladar hendido, craneosinostosis y deterioro del desarrollo intelectual
|
| ALDH3A2 (17p11.2) | Aspartilglucosaminuria |
| ALDH5A1 (6p22.3) | Aspartylglucosaminuria |
| ALDH7A1 (5q23.2) | Ataxia autosómica recesiva por deficiencia de ubiquinona |
| ALDOB (9q31.1) | Ataxia autosómica recesiva tipo Beauce |
| ALG1 (16p13.3) | Ataxia cerebelosa abortiva |
| ALG11 (13q14.3) |
Ataxia de inicio temprano con apraxia oculomotora e hipoalbuminemia
|
| ALG12 (22q13.33) | Ataxia espinocerebelosa autosómica recesiva 12 |
| ALG13 (Xq23) | Ataxia espinocerebelosa autosómica recesiva 7 |
| ALG2 (9q22.33) |
Ataxia espinocerebelosa autosómica recesiva con neuropatía axonal 3
|
| ALG3 (3q27.1) | Ataxia espinocerebelosa tipo 6 |
| ALG6 (1p31.3) | Athetosis |
| ALG8 (11q14.1) | Atonic seizure |
| ALG9 (11q23.1) | Atrial fibrillation, familial, 10 |
| ALPL (1p36.12) | Atrial fibrillation, familial, 13 |
| AMPD2 (1p13.3) | Atrofia muscular espinal distal ligada al cromosoma X tipo 3 |
| AMT (3p21.31) | Atrofia óptica autosómica recesiva, tipo OPA7 |
| ANK3 (10q21.2) | Auditory hallucination |
| ANTXR2 (4q21.21) | Ausencia de habla |
| AP2M1 (3q27.1) | Ausencia típica |
| AP3B1 (5q14.1) | Autism spectrum disorder |
| AP3B2 (15q25.2) | Autism, susceptibility to, 15 |
| AP4B1 (1p13.2) | Autism, susceptibility to, X-linked 3 |
| AP4E1 (15q21.2) | Autismo, susceptibilidad a, 15 |
| AP4M1 (7q22.1) | Autismo, susceptibilidad a, ligado al cromosoma X 3 |
| AP4S1 (14q12) | Autistic behavior |
| APP (21q21.3) |
Autoinflamación-deficiencia de anticuerpos asociada a PLCG2-desregulación inmunitaria
|
| APTX (9p21.1) |
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
|
| ARG1 (6q23.2) |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
|
| ARHGAP31 (3q13.32-13.33) | Autosomal dominant hypocalcemia 1 |
| ARHGEF9 (Xq11.1) | Autosomal dominant inheritance |
| ARSA (22q13.33) | Autosomal dominant nocturnal frontal lobe epilepsy |
| ARSB (5q14.1) | Autosomal dominant nocturnal frontal lobe epilepsy 1 |
| ARV1 (1q42.2) | Autosomal dominant nocturnal frontal lobe epilepsy 3 |
| ARX (Xp21.3) | Autosomal dominant nocturnal frontal lobe epilepsy 4 |
| ASAH1 (8pág. 22) | Autosomal recessive early-onset Parkinson disease 6 |
| Lenguaje de señas americano (7q11.21) | Autosomal recessive limb-girdle muscular dystrophy type 2I |
| ASNS (7q21.3) | Autosomal recessive limb-girdle muscular dystrophy type 2K |
| ASPA (17p13.2) | Autosomal recessive limb-girdle muscular dystrophy type 2M |
| ASS1 (9q34.11) | Autosomal recessive limb-girdle muscular dystrophy type 2N |
| ASXL1 (20q11.21) | Autosomal recessive limb-girdle muscular dystrophy type 2O |
| Cajero automático (11q22.3) | Autosomal recessive nonsyndromic hearing loss 4 |
| ATP13A2 (1p36.13) | Autosomal recessive nonsyndromic hearing loss 86 |
| ATP1A2 (1q23.2) | Autosomal recessive Parkinson disease 14 |
| ATP6AP1 (Xq28) | Autosomal recessive spinocerebellar ataxia 7 |
| ATP6V0A2 (12q24.31) | Axial hypotonia |
| ATP6V1A (3q13.31) | B4GALT1-congenital disorder of glycosylation |
| ATP7A (Xq21.1) | B4GALT1: trastorno congénito de la glicosilación |
| ATP7B (13q14.3) | Babinski sign |
| ATPAF2 (17p11.2) | Bardet-Biedl syndrome |
| ATRX (Xq21.1) | Basal cell carcinoma, susceptibility to, 1 |
| AUH (9q22.31) | Beckwith-Wiedemann syndrome |
| B3GALNT2 (1q42.3) | Beta-D-manosidosis |
| B3GLCT (13q12.3) | Bilateral frontoparietal polymicrogyria |
| B4GALT1 (9p21.1) | Bilateral tonic-clonic seizure |
| BCAP31 (Xq28) | Biotin-responsive basal ganglia disease |
| BCKDHA (19q13.2) | Biotinidase deficiency |
| BCKDHB (6q14.1) |
Blepharophimosis – intellectual disability syndrome, MKB type
|
| BCS1L (2q35) | Blepharospasm |
| MEJOR1 (11q12.3) | Borde bermellón grueso |
| BLTP1 (4q27) | Borjeson-Forssman-Lehmann syndrome |
| BOLA3 (2p13.1) | Bosch-Boonstra-Schaaf optic atrophy syndrome |
| BRAT1 (7p22.3) | Brachydactyly |
| BTD (3p25.1) | Brain atrophy |
| C12orf57 (12p13.31) |
Brain small vessel disease 1 with or without ocular anomalies
|
| C19orf12 (19q12) | Branched-chain keto acid dehydrogenase kinase deficiency |
| CA5A (16q24.2) | Breast neoplasm |
| CACNA1A (19p13.13) | Broad nasal tip |
| CACNA1E (1q25.3) | Brugada syndrome 1 |
| CACNA1H (16p13.3) | Brugada syndrome 5 |
| CACNA2D2 (3p21.31) | Brugada syndrome 8 |
| CACNB4 (2q23.3) | Café-au-lait macules with pulmonary stenosis |
| CARS2 (13q34) | Camptodactyly-tall stature-scoliosis-hearing loss syndrome |
| BARRIL (Xp11.4) | Cáncer de tiroides no medular, 2 |
| CAV1 (7q31.2) | carcinoma de células escamosas |
| CBS (21q22.3) | carcinoma de vejiga urinaria |
| CCDC88A (2p16.1) | Carcinoma of colon |
| CDKL5 (Xp22.13) | Carcinoma of pancreas |
| CERS1 (19p13.11) | Cardiac arrhythmia |
| CHD2 (15q26.1) | Cardiac valvular dysplasia, X-linked |
| CHMP2B (3p11.2) | Cardio-facio-cutaneous syndrome |
| CHRNA2 (8p21.2) |
Cardioencefalomiopatía infantil mortal debida a deficiencia de citocromo c oxidasa 1
|
| CHRNA4 (20q13.33) |
Cardioencefalomiopatía infantil mortal debida a deficiencia de citocromo c oxidasa 2
|
| CHRNA7 (15q13.3) |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
|
| CHRNB2 (1q21.3) |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
|
| CIC (19q13.2) | Cardiofaciocutaneous syndrome 2 |
| CLCN2 (3q27.1) | Cardiofaciocutaneous syndrome 3 |
| CLCN4 (Xp22.2) | Cardiofaciocutaneous syndrome 4 |
| CLDN16 (3q28) | Carnitine palmitoyl transferase II deficiency, myopathic form |
| CLDN19 (1p34.2) | Carnitine palmitoyl transferase II deficiency, neonatal form |
| CLN3 (16p12.1) |
Carnitine palmitoyl transferase II deficiency, severe infantile form
|
| CLN5 (13q22.3) |
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
|
| CLN6 (15q23) | Catarata 38 |
| CLN8 (8p23.3) | CBL-related disorder |
| CLP1 (11q12.1) | CCDC115-CDG |
| CLPP (19p13.3) | Cejas gruesas |
| CLTC (17q23.1) | Central hypotonia |
| CNNM2 (10q24.32) | Cerebellar ataxia-hypogonadism syndrome |
| CNPY3 (6p21.1) | Cerebellar atrophy |
| CNTNAP1 (17q21.2) |
Cerebellar atrophy with seizures and variable developmental delay
|
| CNTNAP2 (7q35-36.1) | Cerebellar atrophy, developmental delay, and seizures |
| COA7 (1p32.3) | Cerebellar vermis atrophy |
| COA8 (14q32.33) | Cerebral amyloid angiopathy, APP-related |
| COASY (17q21.2) |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
|
| COG1 (17q25.1) | Cerebral atrophy |
| COG4 (16q22.1) | Cerebral cortical atrophy |
| COG5 (7q22.3) | Cerebral folate transport deficiency |
| COG6 (13q14.11) | Cerebral visual impairment |
| COG7 (16p12.2) | Cerebrooculofacioskeletal syndrome 1 |
| COG8 (16q22.1) |
Cerebroretinal microangiopathy with calcifications and cysts 1
|
| COL11A2 (6p21.32) | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) |
| COL4A1 (13q34) | Ceroid lipofuscinosis, neuronal, 6A |
| COL4A2 (13q34) | Ceroid lipofuscinosis, neuronal, 6B (Kufs type) |
| COLGALT1 (19p13.11) | Cervical cancer |
| COQ2 (4q21.23) |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
|
| COQ8A (1q42.13) | Charcot-Marie-Tooth disease axonal type 2O |
| COQ9 (16q21) | Charcot-Marie-Tooth disease axonal type 2X |
| COX10 (17p12) | Charcot-Marie-Tooth disease type 2A2 |
| COX15 (10q24.2) | Charcot-Marie-Tooth disease type 2B2 |
| COX20 (1q44) | Charcot-Marie-Tooth disease X-linked dominant 1 |
| COX6B1 (19q13.12) | Charcot-Marie-Tooth disease, demyelinating, IIA 1I |
| CP (3q24-25.1) | Charcot-Marie-Tooth disease, type IA |
| CPA6 (8q13.2) | Chédiak-Higashi syndrome |
| CPLX1 (4p16.3) | Chest pain |
| CPS1 (2q34) | Chilblain lupus 1 |
| CPT1A (11q13.3) | Chilblain lupus 2 |
| CPT2 (1p32.3) |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
|
| CSF1R (5q32) | Childhood onset GLUT1 deficiency syndrome 2 |
| CSNK2B (6p21.33) | Cholestanol storage disease |
| CSTB (21q22.3) | Chorea |
| CTC1 (17p13.1) | Chorea-acanthocytosis |
| CTNNA2 (2p12) | Christianson syndrome |
| CTNS (17p13.2) | Chromosome 15q13.3 microdeletion syndrome |
| CTSA (20q13.12) | Chromosome 2p16.3 deletion syndrome |
| CTSC (11q14.2) | Chromosome 2q37 deletion syndrome |
| CTSD (11p15.5) | Chronic kidney disease |
| CTSF (11q13.2) | Citrullinemia type I |
| CTSK (1q21.3) | Citrullinemia, type II, adult-onset |
| CYFIP2 (5q33.3) | Classic homocystinuria |
| CYP27A1 (2q35) | Clonus |
| CYP2U1 (4q25) | CNS demyelination |
| CYP7B1 (8q12.3) | CNS hypomyelination |
| D2HGDH (2q37.3) | COACH syndrome 1 |
| DAG1 (3p21.31) | Coarse facial features |
| DARS1 (2q21.3) | Cobalamin C disease |
| DARS2 (1q25.1) |
Cobblestone lissencephaly without muscular or ocular involvement
|
| DBT (1p21.2) | Coenzyme Q10 deficiency, primary, 1 |
| DCAF17 (2q31.1) | Coenzyme Q10 deficiency, primary, 3 |
| DCX (Xq23) | COG5: trastorno congénito de la glicosilación |
| DEAF1 (11p15.5) | COG6: trastorno congénito de la glicosilación |
| DEGS1 (1q42.11) | COG7 congenital disorder of glycosylation |
| DENND5A (11p15.4) | COG8-congenital disorder of glycosylation |
| DEPDC5 (22q12.2-12.3) | COG8: trastorno congénito de la glicosilación |
| DGUOK (2p13.1) | Cognitive impairment |
| DHCR7 (11q13.4) | Cognitive impairment with or without cerebellar ataxia |
| DHDDS (1p36.11) | Cohen syndrome |
| DHFR (5q14.1) | Combined deficiency of sialidase AND beta galactosidase |
| DHX30 (3p21.31) | Combined molybdoflavoprotein enzyme deficiency |
| DIAPH1 (5q31.3) | Combined oxidative phosphorylation defect type 11 |
| DKC1 (Xq28) | Combined oxidative phosphorylation defect type 13 |
| DLAT (11q23.1) | Combined oxidative phosphorylation defect type 14 |
| DLD (7q31.1) | Combined oxidative phosphorylation defect type 20 |
| DLL3 (19q13.2) | Combined oxidative phosphorylation defect type 23 |
| DNAJC5 (20q13.33) | Combined oxidative phosphorylation defect type 24 |
| DNM1 (9q34.11) | Combined oxidative phosphorylation defect type 25 |
| DNM1L (12p11.21) | Combined oxidative phosphorylation defect type 27 |
| DOCK6 (19p13.2) | Combined oxidative phosphorylation defect type 4 |
| DOCK7 (1p31.3) | Combined oxidative phosphorylation defect type 7 |
| DOLK (9q34.11) | Combined oxidative phosphorylation deficiency 39 |
| DPAGT1 (11q23.3) | Combined oxidative phosphorylation deficiency 44 |
| DPM1 (20q13.13) | Combined PSAP deficiency |
| DPM2 (9q34.11) | Complex cortical dysplasia with other brain malformations |
| DPM3 (1q22) | Complex cortical dysplasia with other brain malformations 3 |
| DPYD (1p21.3) | Complex cortical dysplasia with other brain malformations 4 |
| DPYS (8q22.3) | Complex cortical dysplasia with other brain malformations 5 |
| DYM (18q21.1) | Complex cortical dysplasia with other brain malformations 7 |
| DYRK1A (21q22.13) | comportamiento agresivo |
| EARS2 (16p12.2) |
Concentración anormal de aminoácidos de cadena ramificada circulantes
|
| ECHS1 (10q26.3) | Cone dystrophy with supernormal rod response |
| EEF1A2 (20q13.33) | Cone-rod dystrophy |
| EFHC1 (6p12.2) | Congenital bile acid synthesis defect 3 |
| EGF (4q25) | Congenital bile acid synthesis defect 4 |
| EIF2B1 (12q24.31) | Congenital bile acid synthesis defect 5 |
| EIF2B2 (14q24.3) |
Congenital brain dysgenesis due to glutamine synthetase deficiency
|
| EIF2B3 (1p34.1) |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
|
| EIF2B4 (2p23.3) | Congenital defect of folate absorption |
| EIF2B5 (3q27.1) | Congenital disorder of deglycosylation 1 |
| EIF3F (11p15.4) | Congenital disorder of glycosylation type 1E |
| EMC10 (19q13.33) |
Congenital disorder of glycosylation with defective fucosylation 1
|
| EML1 (14q32.2) | Congenital generalized lipodystrophy type 3 |
| EPG5 (18q12.3-21.1) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| EPM2A (6q24.3) |
Congenital microcephaly – severe encephalopathy – progressive cerebral atrophy syndrome
|
| EPRS1 (1q41) |
Congenital muscular dystrophy with intellectual disability and severe epilepsy
|
| ERCC6 (10q11.23) | Congenital muscular hypertrophy-cerebral syndrome |
| ERCC8 (5q12.1) | Congenital myasthenic syndrome 12 |
| ETFA (15q24.2-24.3) | Congenital myasthenic syndrome 13 |
| ETFB (19q13.41) | Congenital myasthenic syndrome 14 |
| ETFDH (4q32.1) | Congenital myasthenic syndrome 16 |
| ETHE1 (19q13.31) | Conotruncal heart malformations |
| F2 (11p11.2) |
Constitutional megaloblastic anemia with severe neurologic disease
|
| F5 (1q24.2) | Convulsiones benignas familiares infantiles, 2 |
| FA2H (16q23.1) | Convulsiones benignas familiares infantiles, 5 |
| FAH (15q25.1) | Convulsiones infantiles benignas familiares, 3 |
| FARS2 (6p25.1) | Convulsiones neonatales benignas familiares, 1 |
| FARSB (2q36.1) | Convulsiones neonatales benignas familiares, 2 |
| FASTKD2 (2q33.3) | Convulsiones sensibles al fosfato de piridoxal |
| FBXL4 (6q16.1-16.2) | Cornelia de Lange syndrome 1 |
| FDX2 (19p13.2) | Cornelia de Lange syndrome 3 |
| FGF12 (3q28-29) | Corpus callosum agenesis-abnormal genitalia syndrome |
| FH (1q43) | Corpus callosum, agenesis of |
| FHL1 (Xq26.3) | Cortical dysplasia |
| FIG4 (6q21) | Cortical dysplasia-focal epilepsy syndrome |
| FKRP (19q13.32) | Cortical dysplasia, complex, with other brain malformations 9 |
| FLVCR2 (14q24.3) | Costello syndrome |
| FOLR1 (11q13.4) | Cowden syndrome 7 |
| FOXG1 (14q12) | Creatine transporter deficiency |
| FOXRED1 (11q24.2) | Crouzon syndrome-acanthosis nigricans syndrome |
| FRRS1L (9q31.3) | Cuerpo calloso grueso |
| FTL (19q13.33) |
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
|
| FUCA1 (1p36.11) | Cutis laxa autosómica recesiva tipo 2D |
| FUT8 (14q23.3) | Cutis laxa with osteodystrophy |
| FXYD2 (11q23.3) | Cystic leukoencephalopathy without megalencephaly |
| GAA (17q25.3) | D-2-hydroxyglutaric aciduria 1 |
| GABBR2 (9q22.33) | D,L-2-hydroxyglutaric aciduria |
| GABRA1 (5q34) | Danon disease |
| GABRA2 (4p12) | Deafness dystonia syndrome |
| GABRB1 (4p12) |
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
|
| GABRB2 (5q34) | Defecto de fosforilación oxidativa combinada tipo 27 |
| GABRB3 (15q12) | Deficiencia de 3-hidroxi-3-metilglutaril-CoA sintasa |
| GABRD (1p36.33) | deficiencia de 3-hidroxiisobutiril-CoA hidrolasa |
| GABRG2 (5q34) | Deficiencia de 3-metilcrotonil-CoA carboxilasa 1 |
| GAD1 (2q31.1) | Deficiencia de 3-metilcrotonil-CoA carboxilasa 2 |
| GALC (14q31.3) | Deficiencia de 6-piruvoil-tetrahidrobiopterina sintasa |
| GALNS (16q24.3) | Deficiencia de acil-CoA deshidrogenasa 9 |
| GALT (9p13.3) |
Deficiencia de acil-CoA deshidrogenasa de cadena muy larga
|
| GAMT (19p13.3) | Deficiencia de adenilosuccinato liasa |
| GAN (16q23.2) | Deficiencia de alfa-metilacil-CoA racemasa |
| GBA1 (1q22) | Deficiencia de alfa-N-acetilgalactosaminidasa tipo 1 |
| GBE1 (3p12.2) | Deficiencia de aminoacilasa 1 |
| GCDH (19p13.13) | deficiencia de arginasa |
| GCH1 (14q22.2) | Deficiencia de argininosuccinato liasa |
| GFAP (17q21.31) | deficiencia de biotinidasa |
| GFER (16p13.3) | Deficiencia de carnitina palmitoil transferasa 1A |
| GFM1 (3q25.32) |
Deficiencia de carnitina palmitoil transferasa II, forma neonatal
|
| GFM2 (5q13.3) | Deficiencia de enzima peroxisomal bifuncional |
| GFPT1 (2p13.3) | Deficiencia de guanidinoacetato metiltransferasa |
| GJA1 (6q22.31) | Deficiencia de la proteína activadora de esfingolípidos 1 |
| GJB1 (Xq13.1) | Deficiencia de succinato-semialdehído deshidrogenasa |
| GJC2 (1q42.13) | deficiencia de sulfito oxidasa |
| GLA (Xq22.1) |
Deficiencia de sulfito oxidasa debido a deficiencia del cofactor de molibdeno tipo B
|
| GLB1 (3p22.3) |
Deficiencia de sulfito oxidasa debido a la deficiencia del cofactor molibdeno tipo A
|
| GLDC (9p24.1) |
Deficiencia de sulfito oxidasa debido a la deficiencia del cofactor molibdeno tipo C
|
| GLUD1 (10q23.2) | Deficiencia de transaminasa del ácido gamma-aminobutírico |
| GLUL (1q25.3) | Deficiencia de translocasa de acilcarnitina carnitina |
| GM2A (5q33.1) | Deficiencia del transportador de creatina |
| GMPPA (2q35) | Deficiencia del transporte cerebral de folato |
| GNAO1 (16q13) | Deficiency of alpha-mannosidase |
| GNAQ (9q21.2) | Deficiency of beta-ureidopropionase |
| GNB5 (15q21.2) | Deficiency of butyryl-CoA dehydrogenase |
| GNE (9p13.3) | Deficiency of ferroxidase |
| GNPAT (1q42.2) | Deficiency of guanidinoacetate methyltransferase |
| GNPTAB (12q23.2) | Deficiency of hydroxymethylglutaryl-CoA lyase |
| GNPTG (16p13.3) | Deficiency of ribose-5-phosphate isomerase |
| GNS (12q14.3) |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
| GOSR2 (17q21.32) | Degeneración esponjosa del sistema nervioso central |
| GOT2 (16q21) | Degeneración macular relacionada con la edad 7 |
| GPAA1 (8q24.3) | Delayed myelination |
| GPC3 (Xq26.2) | Delayed speech and language development |
| GRIA2 (4q32.1) | Dementia |
| GRIN1 (9q34.3) | Dent disease type 2 |
| GRIN2A (16p13.2) | Deposición de material osmiófilo granular vascular |
| GRIN2B (12p13.1) | Depression |
| GRIN2D (19q13.33) | Developmental and epileptic encephalopathy 101 |
| GRN (17q21.31) | Developmental and epileptic encephalopathy 89 |
| GTPBP2 (6p21.1) | Developmental and epileptic encephalopathy 92 |
| GTPBP3 (19p13.11) | Developmental and epileptic encephalopathy 94 |
| GUF1 (4p12) | Developmental and epileptic encephalopathy, 1 |
| GUSB (7q11.21) | Developmental and epileptic encephalopathy, 11 |
| HACE1 (6q16.3) | Developmental and epileptic encephalopathy, 12 |
| HADHA (2p23.3) | Developmental and epileptic encephalopathy, 13 |
| HADHB (2p23.3) | Developmental and epileptic encephalopathy, 17 |
| HCFC1 (Xq28) | Developmental and epileptic encephalopathy, 18 |
| HCN1 (5p12) | Developmental and epileptic encephalopathy, 19 |
| HEPACAM (11q24.2) | Developmental and epileptic encephalopathy, 2 |
| HEXA (15q23) | Developmental and epileptic encephalopathy, 21 |
| HEXB (5q13.3) | Developmental and epileptic encephalopathy, 23 |
| HGSNAT (8p11.21-11.1) | Developmental and epileptic encephalopathy, 24 |
| HIBCH (2q32.2) | Developmental and epileptic encephalopathy, 25 |
| HIKESHI (11q14.2) | Developmental and epileptic encephalopathy, 26 |
| HLCS (21q22.13) | Developmental and epileptic encephalopathy, 27 |
| HMGCL (1p36.11) | Developmental and epileptic encephalopathy, 28 |
| HMGCS2 (1p12) | Developmental and epileptic encephalopathy, 3 |
| HNRNPU (1q44) | Developmental and epileptic encephalopathy, 30 |
| HRAS (11p15.5) | Developmental and epileptic encephalopathy, 31A |
| HSD17B4 (5q23.1) | Developmental and epileptic encephalopathy, 32 |
| HSPD1 (2q33.1) | Developmental and epileptic encephalopathy, 33 |
| HTRA1 (10q26.13) | Developmental and epileptic encephalopathy, 34 |
| HYCC1 (7p15.3) | Developmental and epileptic encephalopathy, 35 |
| IARS2 (1q41) | Developmental and epileptic encephalopathy, 36 |
| IBA57 (1q42.13) | Developmental and epileptic encephalopathy, 37 |
| IDS (Xq28) | Developmental and epileptic encephalopathy, 38 |
| IDUA (4p16.3) | Developmental and epileptic encephalopathy, 39 |
| IER3IP1 (18q21.1) | Developmental and epileptic encephalopathy, 4 |
| IFIH1 (2q24.2) | Developmental and epileptic encephalopathy, 40 |
| IQSEC2 (Xp11.22) | Developmental and epileptic encephalopathy, 41 |
| ISCA2 (14q24.3) | Developmental and epileptic encephalopathy, 42 |
| ITPA (20p13) | Developmental and epileptic encephalopathy, 43 |
| IVD (15q15.1) | Developmental and epileptic encephalopathy, 44 |
| JAG1 (20p12.2) | Developmental and epileptic encephalopathy, 45 |
| JAM3 (11q25) | Developmental and epileptic encephalopathy, 46 |
| KAT8 (16p11.2) | Developmental and epileptic encephalopathy, 47 |
| KCNA1 (12p13.32) | Developmental and epileptic encephalopathy, 48 |
| KCNA2 (1p13.3) | Developmental and epileptic encephalopathy, 49 |
| KCNB1 (20q13.13) | Developmental and epileptic encephalopathy, 5 |
| KCNC1 (11p15.1) | Developmental and epileptic encephalopathy, 51 |
| KCNH1 (1q32.2) | Developmental and epileptic encephalopathy, 52 |
| KCNJ10 (1q23.2) | Developmental and epileptic encephalopathy, 53 |
| KCNK4 (11q13.1) | Developmental and epileptic encephalopathy, 54 |
| KCNMA1 (10q22.3) | Developmental and epileptic encephalopathy, 55 |
| KCNQ2 (20q13.33) | Developmental and epileptic encephalopathy, 56 |
| KCNQ3 (8q24.22) | Developmental and epileptic encephalopathy, 57 |
| KCNT1 (9q34.3) | Developmental and epileptic encephalopathy, 59 |
| KCNT2 (1q31.3) | Developmental and epileptic encephalopathy, 60 |
| KCTD7 (7q11.21) | Developmental and epileptic encephalopathy, 61 |
| KIF2A (5q12.1) | Developmental and epileptic encephalopathy, 62 |
| KIF5A (12q13.3) | Developmental and epileptic encephalopathy, 63 |
| KMT2E (7q22.3) | Developmental and epileptic encephalopathy, 64 |
| L2HGDH (14q21.3) | Developmental and epileptic encephalopathy, 65 |
| LAMA2 (6q22.33) | Developmental and epileptic encephalopathy, 66 |
| LAMB1 (7q31.1) | Developmental and epileptic encephalopathy, 68 |
| LAMP2 (Xq24) | Developmental and epileptic encephalopathy, 69 |
| LARGE1 (22q12.3) | Developmental and epileptic encephalopathy, 7 |
| LAT (16p11.2) | Developmental and epileptic encephalopathy, 70 |
| LDB3 (10q23.2) | Developmental and epileptic encephalopathy, 72 |
| LGI1 (10q23.33) | Developmental and epileptic encephalopathy, 73 |
| LIAS (4p14) | Developmental and epileptic encephalopathy, 75 |
| LIPA (10q23.31) | Developmental and epileptic encephalopathy, 77 |
| LIPT1 (2q11.2) | Developmental and epileptic encephalopathy, 78 |
| LMNB1 (5q23.2) | Developmental and epileptic encephalopathy, 8 |
| LRPPRC (2p21) | Developmental and epileptic encephalopathy, 80 |
| LYRM7 (5q23.3-31.1) | Developmental and epileptic encephalopathy, 82 |
| LYST (1q42.3) | Developmental and epileptic encephalopathy, 83 |
| MAF (16q23.2) | Developmental and epileptic encephalopathy, 84 |
| MAGT1 (Xq21.1) |
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
|
| MAN1B1 (9q34.3) | Developmental and epileptic encephalopathy, 9 |
| MAN2B1 (19p13.13) | Developmental regression |
| MANBA (4q24) | Diabetes mellitus tipo 2 |
| MAP2K1 (15q22.31) | Diabetes mellitus, permanent neonatal 3 |
| MAP2K2 (19p13.3) | Diabetes mellitus, transient neonatal, 2 |
| MARS2 (2q33.1) | Diabetes mellitus, transient neonatal, 3 |
| MBD5 (2q23.1) | Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| MCCC1 (3q27.1) | Difficulty walking |
| MCCC2 (5q13.2) |
Diffuse cerebral and cerebellar atrophy – intractable seizures – progressive microcephaly syndrome
|
| MCOLN1 (19p13.2) |
Dificultades graves de alimentación, retraso del crecimiento y microcefalia debido al síndrome de deficiencia de ASXL3
|
| MDH2 (7q11.23) | DiGeorge syndrome |
| MECP2 (Xq28) | Dihydropteridine reductase deficiency |
| MECR (1p35.3) | Dihydropyrimidinase deficiency |
| MED17 (11q21) | Dihydropyrimidine dehydrogenase deficiency |
| MEF2C (5q14.3) | Dilated cardiomyopathy 1C |
| MFF (2q36.3) | Dilated cardiomyopathy 1E |
| MFN2 (1p36.22) | Dilated cardiomyopathy 1GG |
| MFSD8 (4q28.2) | Dilated cardiomyopathy 1X |
| MGAT2 (14q21.3) | Discapacidad intelectual autosómica dominante 20 |
| MGME1 (20p11.23) | Discapacidad intelectual autosómica dominante 34 |
| MLC1 (22q13.33) | Discapacidad intelectual autosómica dominante 42 |
| MLPH (2q37.3) | Discapacidad intelectual autosómica dominante 5 |
| MMAA (4q31.21) | Discapacidad intelectual autosómica dominante 8 |
| MMAB (12q24.11) |
Discapacidad intelectual autosómica dominante no sindrómica
|
| MMACHC (1p34.1) |
Discapacidad intelectual ligada al cromosoma X con hábito marfanoide
|
| MMADHC (2q23.2) |
Discapacidad intelectual ligada al cromosoma X tipo Cabezas
|
| MMUT (6p12.3) |
Discapacidad intelectual ligada al cromosoma X, tipo Cantagrel
|
| MOCS1 (6p21.2) |
Discapacidad intelectual sindrómica ligada al cromosoma X 94
|
| MOCS2 (5q11.2) |
Discapacidad intelectual sindrómica ligada al cromosoma X tipo Claes-Jensen
|
| MOGS (2p13.1) |
Discapacidad intelectual sindrómica ligada al cromosoma X tipo Hedera
|
| MPDU1 (17p13.1) |
Discapacidad intelectual sindrómica ligada al cromosoma X tipo Lubs
|
| MPI (15q24.1-24.2) |
Discapacidad intelectual sindrómica ligada al cromosoma X tipo Najm
|
| MPV17 (2p23.3) |
Discapacidad intelectual sindrómica ligada al cromosoma X tipo Nascimento
|
| MRPS22 (3q23) |
Discapacidad intelectual sindrómica ligada al cromosoma X tipo Snyder
|
| MS4A1 (11q12.2) | Discromatosis simétrica de las extremidades |
| MTFMT (15q22.31) | Disostosis espondilocostal 1, autosómica recesiva |
| MTHFR (1p36.22) | Displacement of the urethral meatus |
| MTHFS (15q25.1) | Displasia espondiloepimetafisaria tipo Bieganski |
| MTOR (1p36.22) | Displasia tanatofórica tipo 1 |
| MTR (1q43) | Displasia tanatofórica tipo 2 |
| MTRFR (12q24.31) | Distrofia muscular congénita de Walker-Warburg |
| MYO5A (15q21.2) | Distrofia muscular de cinturas autosómica recesiva tipo 2I |
| MYOT (5q31.2) | Distrofia muscular de cinturas autosómica recesiva tipo 2P |
| NAGA (22q13.2) | DK1-congenital disorder of glycosylation |
| NAGLU (17q21.2) | Downslanted palpebral fissures |
| NAGS (17q21.31) | DPAGT1-congenital disorder of glycosylation |
| NARS2 (11q14.1) | DYRK1A-related intellectual disability syndrome |
| NAXD (13q34) | Dysarthria |
| NAXE (1q22) | Dyskeratosis congenita, autosomal dominant 3 |
| NBAS (2p24.3) | Dyskeratosis congenita, X-linked |
| NDE1 (16p13.11) | Dyssynergia |
| NDUFA1 (Xq24) | Dystonia 32 |
| NDUFA10 (2q37.3) | Dystonia 9 |
| NDUFA11 (19p13.3) |
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
|
| NDUFA12 (12q22) | Dystonic disorder |
| NDUFA2 (5q31.3) |
Early infantile epileptic encephalopathy with suppression bursts
|
| NDUFA9 (12p13.32) | Early myoclonic encephalopathy |
| NDUFAF1 (15q15.1) | Early-onset Parkinson disease 20 |
| NDUFAF2 (5q12.1) |
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
|
| NDUFAF3 (3p21.31) | EAST syndrome |
| NDUFAF4 (6q16.1) | EEG abnormality |
| NDUFAF5 (20p12.1) | EEG with irregular generalized spike and wave complexes |
| NDUFAF6 (8q22.1) | EEG with photoparoxysmal response |
| NDUFB3 (2q33.1) | Electrorretinograma anormal |
| NDUFS1 (2q33.3) | Emotional lability |
| NDUFS2 (1q23.3) | Encefalopatía epiléptica y del desarrollo 91 |
| NDUFS3 (11p11.2) | Encefalopatía epiléptica y del desarrollo 94 |
| NDUFS4 (5q11.2) | Encefalopatía epiléptica y del desarrollo 98 |
| NDUFS6 (5p15.33) | Encefalopatía epiléptica y del desarrollo 99 |
| NDUFS7 (19p13.3) | Encefalopatía epiléptica y del desarrollo, 1 |
| NDUFS8 (11q13.2) | Encefalopatía epiléptica y del desarrollo, 11 |
| NDUFV1 (11q13.2) | Encefalopatía epiléptica y del desarrollo, 12 |
| NDUFV2 (18p11.22) | Encefalopatía epiléptica y del desarrollo, 13 |
| NECAP1 (12p13.31) | Encefalopatía epiléptica y del desarrollo, 14 |
| NEDD4L (18q21.31) | Encefalopatía epiléptica y del desarrollo, 15 |
| NEFH (22q12.2) | Encefalopatía epiléptica y del desarrollo, 16 |
| NEU1 (6p21.33) |
Encefalopatía infantil por deficiencia de tiamina pirofosfoquinasa
|
| NEUROD2 (17q12) |
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
|
| NEXMIF (Xq13.3) | Encephalopathy due to GLUT1 deficiency |
| NF1 (17q11.2) |
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
|
| NFE2L2 (2q31.2) | Encephalopathy, acute, infection-induced, susceptibility to, 4 |
| NFU1 (2p13.3) |
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
|
| NGLY1 (3p24.2) |
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
|
| NHLRC1 (6p22.3) | Enfermedad de Alexander |
| NOTCH1 (9q34.3) | Enfermedad de Alzheimer 3 |
| NOTCH3 (19p13.12) | Enfermedad de cuerpos poliglucosánicos del adulto |
| NPC1 (18q11.2) | Enfermedad de la hemoglobina H adquirida |
| NPC2 (14q24.3) | Enfermedad de la sustancia blanca que desaparece |
| NPRL2 (3p21.31) | Enfermedad de la válvula aórtica 1 |
| NPRL3 (16p13.3) | Enfermedad de Lafora |
| NRXN1 (2p16.3) | Enfermedad de los ganglios basales sensible a la biotina |
| NSD2 (4p16.3) | Enfermedad de los vasos pequeños del cerebro 3 |
| NUBPL (14q12) | enfermedad de Tay-Sachs |
| NUS1 (6q22.1) | Enfermedad de Tay-Sachs, variante AB |
| OAT (10q26.13) |
Enfermedad de vasos pequeños del cerebro 1 con o sin anomalías oculares
|
| OCLN (5q13.2) | Enfermedad de Wilson |
| OCRL (Xq26.1) | Enhancement of the C-reflex |
| OPA1 (3q29) | Epicanthus |
| OPA3 (19q13.32) | Epidermal nevus |
| OSGEP (14q11.2) |
Epilepsia autosómica dominante con características auditivas
|
| OTC (Xp11.4) |
Epilepsia del lóbulo frontal nocturna autosómica dominante 1
|
| OTUD6B (8q21.3) |
Epilepsia del lóbulo frontal nocturna autosómica dominante 3
|
| P4HTM (3p21.31) |
Epilepsia del lóbulo frontal nocturna autosómica dominante 4
|
| PACS2 (14q32.33) |
Epilepsia del lóbulo frontal nocturna autosómica dominante 5
|
| PAFAH1B1 (17p13.3) | Epilepsia dependiente de piridoxina |
| PAH (12q23.2) | Epilepsia idiopática generalizada, susceptibilidad a, 12 |
| PAK1 (11q13.5-14.1) | Epilepsia mioclónica grave en la infancia |
| PANK2 (20p13) | Epilepsia mioclónica progresiva tipo 3 |
| PARS2 (1p32.3) | Epilepsia mioclónica progresiva tipo 7 |
| PC (11q13.2) | Epilepsy |
| PCCA (13q32.3) | Epilepsy with myoclonic atonic seizures |
| PCCB (3q22.3) |
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
|
| PCDH12 (5q31.3) | Epilepsy, childhood absence, susceptibility to, 5 |
| PCDH15 (10q21.1) | Epilepsy, childhood absence, susceptibility to, 6 |
| PCDH19 (Xq22.1) | Epilepsy, early-onset, with or without developmental delay |
| PCYT2 (17q25.3) | Epilepsy, familial focal, with variable foci 1 |
| PDHA1 (Xp22.12) | Epilepsy, familial focal, with variable foci 2 |
| PDHB (3p14.3) | Epilepsy, familial focal, with variable foci 3 |
| PDHX (11p13) | Epilepsy, familial temporal lobe, 1 |
| PDP1 (8q22.1) | Epilepsy, idiopathic generalized, susceptibility to, 10 |
| PDSS1 (10p12.1) | Epilepsy, idiopathic generalized, susceptibility to, 11 |
| PDSS2 (6q21) | Epilepsy, idiopathic generalized, susceptibility to, 12 |
| PDYN (20p13) | Epilepsy, idiopathic generalized, susceptibility to, 13 |
| PET100 (19p13.2) | Epilepsy, idiopathic generalized, susceptibility to, 15 |
| PEX1 (7q21.2) | Epilepsy, idiopathic generalized, susceptibility to, 8 |
| PEX10 (1p36.32) | Epilepsy, idiopathic generalized, susceptibility to, 9 |
| PEX11B (1q21.1) | Epilepsy, progressive myoclonic, 11 |
| PEX12 (17q12) | Epilepsy, progressive myoclonic, 1B |
| PEX13 (2p15) |
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
|
| PEX14 (1p36.22) | Epileptic encephalopathy |
| PEX16 (11p11.2) | Epileptic spasm |
| PEX19 (1q23.2) | Episodic ataxia type 1 |
| PEX2 (8q21.13) | Episodic ataxia type 2 |
| PEX26 (22q11.21) | Episodic ataxia type 5 |
| PEX3 (6q24.2) | Episodic ataxia type 6 |
| PEX5 (12p13.31) | Episodic ataxia, type 9 |
| PEX6 (6p21.1) | Episodic kinesigenic dyskinesia 1 |
| PEX7 (6q23.3) | Episodic pain syndrome, familial, 2 |
| PGAP1 (2q33.1) | Erythrokeratodermia variabilis et progressiva 3 |
| PGK1 (Xq21.1) | Esclerosis lateral amiotrófica tipo 1 |
| PGM1 (1p31.3) | Esclerosis tuberosa 1 |
| PHACTR1 (6p24.1) | Esclerosis tuberosa 2 |
| PHGDH (1p12) | Espasticidad |
| PHYH (10p13) | Estado epiléptico |
| PIGA (Xp22.2) | Estrabismo, susceptibilidad a |
| PIGB (15q21.3) | Ethylmalonic encephalopathy |
| PIGH (14q24.1) | Fabry disease |
| PIGO (9p13.3) |
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
|
| PIGP (21q22.13) | Failure to thrive |
| PIGQ (16p13.3) | Familial aplasia of the vermis |
| PIGS (17q11.2) | Familial digital arthropathy-brachydactyly |
| PIGT (20q13.12) | Familial encephalopathy with neuroserpin inclusion bodies |
| PIGU (20q11.22) | Familial focal epilepsy with variable foci |
| PIGV (1p36.11) | Familial hypocalciuric hypercalcemia |
| PIGW (17q12) | Familial hypokalemia-hypomagnesemia |
| PLA2G6 (22q13.1) | Familial infantile myoclonic epilepsy |
| PLAA (9p21.2) | Familial porencephaly |
| PLCB1 (20p12.3) | Familial temporal lobe epilepsy 5 |
| PLCG2 (16q23.3) | Familial temporal lobe epilepsy 7 |
| PLEKHG2 (19q13.2) | Fanconi renotubular syndrome 5 |
| PLP1 (Xq22.2) | Farber lipogranulomatosis |
| PMM2 (16p13.2) |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
|
| PMP22 (17p12) | Febrile seizures, familial, 11 |
| PMPCB (7q22.1) | Febrile seizures, familial, 4 |
| PNKP (19q13.33) | Febrile seizures, familial, 8 |
| PNPO (17q21.32) | Feeding difficulties in infancy |
| PNPT1 (2p16.1) | Female pseudohermaphroditism |
| POLG (15q26.1) |
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
|
| POLG2 (17q23.3) | FG syndrome 1 |
| POLR1C (6p21.1) | FG syndrome 2 |
| POLR3A (10q22.3) | FG syndrome 4 |
| POLR3B (12q23.3) | Fibrilación ventricular paroxística familiar tipo 1 |
| POMK (8p11.21) | Fine hair |
| POMP (13q12.3) |
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
|
| POMT1 (9q34.13) | Focal impaired awareness seizure |
| PPP2CA (5q31.1) |
Focal segmental glomerulosclerosis and neurodevelopmental syndrome
|
| PPP2R1A (19q13.41) | Focal-onset seizure |
| PPP3CA (4q24) | Forma facial anormal |
| PPT1 (1p34.2) | Fowler syndrome |
| PRF1 (10q22.1) | Fragile site 11b |
| PRICKLE1 (12q12) | Frontometaphyseal dysplasia 1 |
| PRICKLE2 (3p14.1) |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
| PRMT7 (16q22.1) |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
|
| PRODH (22q11.21) | Fucosidosis |
| PRPS1 (Xq22.3) | Fumarase deficiency |
| PRRT2 (16p11.2) | Gait ataxia |
| PSAP (10q22.1) | Gait disturbance |
| PSEN1 (14q24.2) | Galactosylceramide beta-galactosidase deficiency |
| PTEN (10q23.31) | Galloway-Mowat syndrome 1 |
| PTPN23 (3p21.31) | Galloway-Mowat syndrome 3 |
| PTS (11q23.1) | Gamma-aminobutyric acid transaminase deficiency |
| PUM1 (1p35.2) | Gastroesophageal reflux |
| PURA (5q31.3) | Gastrointestinal stromal tumor |
| PYCR2 (1q42.12) | Gaucher disease due to saposin C deficiency |
| QARS1 (3p21.31) | Gaucher disease type I |
| QDPR (4p15.32) | Gaze-evoked nystagmus |
| RAB11A (15q22.31) | Geleophysic dysplasia 1 |
| RAB11B (19p13.2) | Generalized epilepsy |
| RAB27A (15q21.3) | Generalized epilepsy with febrile seizures plus |
| RAI1 (17p11.2) | Generalized epilepsy with febrile seizures plus, type 1 |
| RALA (7p14.1) | Generalized epilepsy with febrile seizures plus, type 10 |
| RALGAPA1 (14q13.2) | Generalized epilepsy with febrile seizures plus, type 2 |
| RARS1 (5q34) | Generalized epilepsy with febrile seizures plus, type 7 |
| RARS2 (6q15) | Generalized epilepsy with febrile seizures plus, type 9 |
| RELN (7q22.1) | Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RFT1 (3p21.1) | Generalized myoclonic seizure |
| RHOBTB2 (8p21.3) | Generalized non-motor (absence) seizure |
| RMND1 (6q25.1) | Generalized tonic seizure |
| RNASEH2A (19p13.13) | Genitales ambiguos |
| RNASEH2B (13q14.3) | Giant axonal neuropathy 1 |
| RNASEH2C (11q13.1) | Giant somatosensory evoked potentials |
| RNASET2 (6q27) | Gillessen-Kaesbach-Nishimura syndrome |
| RNF113A (Xq24) | Gliosis |
| RNF13 (3q25.1) | Global developmental delay |
| RNF216 (7p22.1) | Glutaric aciduria, type 1 |
| ROGDI (16p13.3) | Glycine encephalopathy |
| ROR2 (9q22.31) |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
|
| RORA (15q22.2) | Glycogen storage disease, type II |
| RORB (9q21.13) | Glycosylphosphatidylinositol biosynthesis defect 15 |
| RPIA (2p11.2) | Glycosylphosphatidylinositol biosynthesis defect 17 |
| RRM2B (8q22.3) | Glycosylphosphatidylinositol biosynthesis defect 18 |
| RTN4IP1 (6q21) | Glycosylphosphatidylinositol biosynthesis defect 21 |
| SAMHD1 (20q11.23) | GM1 gangliosidosis type 2 |
| SCARB2 (4q21.1) | GM1 gangliosidosis type 3 |
| SCN1A (2q24.3) | GM3 synthase deficiency |
| SCN1B (19q13.11) | GNE myopathy |
| SCN2A (2q24.3) | GNPTG-mucolipidosis |
| SCN3A (2q24.3) | Gonadal dysgenesis |
| SCN8A (12q13.13) | Gorlin syndrome |
| SCN9A (2q24.3) | GRACILE syndrome |
| SCO1 (17p13.1) | Greenberg dysplasia |
| SCO2 (22q13.33) | Greig cephalopolysyndactyly syndrome |
| SDHA (5p15.33) | Griscelli syndrome type 1 |
| SDHAF1 (19q13.12) | Griscelli syndrome type 2 |
| SDHB (1p36.13) | Griscelli syndrome type 3 |
| SDHD (11q23.1) |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
|
| SEC23B (20p11.23) | Growth delay |
| SELENOI (2p23.3) | GTP cyclohydrolase I deficiency with hyperphenylalaninemia |
| SEMA6B (19p13.3) | Hamartoma of hypothalamus |
| SEPSECS (4p15.2) | Hawkinsinuria |
| SERAC1 (6q25.3) | Heimler syndrome 1 |
| SERPINI1 (3q26.1) | Heimler syndrome 2 |
| SETD1A (16p11.2) | Hemiplegia/hemiparesis |
| SGCE (7q21.3) | Hemiplejía alternante de la infancia |
| SGSH (17q25.3) | Hemorrhage, intracerebral, susceptibility to |
| SIK1 (21q22.3) | Hepatocellular necrosis |
| SLC12A3 (16q13) |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
|
| SLC12A5 (20q13.12) | Hereditary disease |
| SLC13A3 (20q13.12) | Hereditary fructosuria |
| SLC13A5 (17p13.1) | Hereditary leiomyomatosis and renal cell cancer |
| SLC16A2 (Xq13.2) | Hereditary spastic paraplegia 10 |
| SLC17A5 (6q13) | Hereditary spastic paraplegia 15 |
| SLC19A3 (2q36.3) | Hereditary spastic paraplegia 2 |
| SLC1A2 (11p13) | Hereditary spastic paraplegia 35 |
| SLC1A4 (2p14) | Hereditary spastic paraplegia 43 |
| SLC22A5 (5q31.1) | Hereditary spastic paraplegia 47 |
| SLC25A1 (22q11.21) | Hereditary spastic paraplegia 50 |
| SLC25A12 (2q31.1) | Hereditary spastic paraplegia 51 |
| SLC25A13 (7q21.3) | Hereditary spastic paraplegia 52 |
| SLC25A15 (13q14.11) | Hereditary spastic paraplegia 56 |
| SLC25A20 (3p21.31) | Hereditary spastic paraplegia 7 |
| SLC25A22 (11p15.5) | Hereditary spastic paraplegia 77 |
| SLC25A3 (12q23.1) |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
|
| SLC25A4 (4q35.1) | Hermansky-Pudlak syndrome 2 |
| SLC2A1 (1p34.2) | Heterotopía en banda del cerebro |
| SLC33A1 (3q25.31) | Heterotopia, periventricular, X-linked dominant |
| SLC35A1 (6q15) | Hiatt-Neu-Cooper neurodevelopmental syndrome |
| SLC35A2 (Xp11.23) | High forehead |
| SLC39A8 (4q24) | Highly arched eyebrow |
| SLC6A1 (3p25.3) | Hipofosfatasia del adulto |
| SLC6A8 (Xq28) | Holocarboxylase synthetase deficiency |
| SLC7A7 (14q11.2) | Holoprosencephaly 2 |
| SLC9A6 (Xq26.3) | Holoprosencephaly 3 |
| SMC1A (Xp11.22) | Holoprosencephaly 5 |
| SMPD1 (11p15.4) | Holoprosencephaly 7 |
| SNIP1 (1p34.3) | Holoprosencephaly 9 |
| SNTA1 (20q11.21) |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
|
| SON (21q22.11) | Houge-Janssens syndrome 2 |
| SOX10 (22q13.1) | Houge-Janssens syndrome 3 |
| SPART (13q13.3) | HSD10 mitochondrial disease |
| SPG11 (15q21.1) | Huppke-Brendel syndrome |
| SPG7 (16q24.3) | Hurler syndrome |
| SPTAN1 (9q34.11) | Hyaline fibromatosis syndrome |
| SRD5A3 (4q12) | Hydrocephalus |
| SSR4 (Xq28) | Hyperammonemia, type III |
| ST3GAL3 (1p34.1) |
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
|
| ST3GAL5 (2p11.2) | Hyperekplexia 1 |
| STAMBP (2p13.1) | Hyperekplexia 2 |
| STAT1 (2q32.2) | Hyperinsulinemic hypoglycemia, familial, 1 |
| STT3A (11q24.2) | Hyperinsulinemic hypoglycemia, familial, 2 |
| STX1B (16p11.2) | Hyperinsulinism-hyperammonemia syndrome |
| STXBP1 (9q34.11) | Hyperkalemic periodic paralysis |
| SUCLA2 (13q14.2) |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
| SUCLG1 (2p11.2) | Hyperphosphatasia with intellectual disability syndrome 1 |
| SUMF1 (3p26.1) | Hyperphosphatasia with intellectual disability syndrome 2 |
| SUOX (12q13.2) | Hyperphosphatasia with intellectual disability syndrome 4 |
| SURF1 (9q34.2) | Hyperphosphatasia with intellectual disability syndrome 5 |
| SYN1 (Xp11.3-11.23) | Hyperprolinemia type 2 |
| SYNE1 (6q25.2) | Hypertonia |
| SYNGAP1 (6p21.32) | Hypertrichosis |
| SYNJ1 (21q22.11) | Hypobetalipoproteinemia |
| SZT2 (1p34.2) | Hypochondroplasia |
| TACO1 (17q23.3) | Hypoglycemia |
| TBC1D24 (16p13.3) | Hypokalemic periodic paralysis, type 1 |
| TBCD (17q25.3) | Hypokalemic periodic paralysis, type 2 |
| TBCE (1q42.3) | Hypokinesia |
| TBCK (4q24) | Hypomagnesemia, seizures, and intellectual disability 1 |
| TCF4 (18q21.2) | Hypomyelinating leukodystrophy 10 |
| TDP2 (6p22.3) | Hypomyelinating leukodystrophy 13 |
| TGFB1 (19q13.2) | Hypomyelinating leukodystrophy 3 |
| TIMM50 (19q13.2) | Hypomyelinating leukodystrophy 4 |
| TIMM8A (Xq22.1) | Hypomyelinating leukodystrophy 6 |
| TINF2 (14q12) | Hypomyelinating leukodystrophy 9 |
| TK2 (16q21) | Hypomyelination and Congenital Cataract |
| TMEM106B (7p21.3) |
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
|
| TMEM126A (11q14.1) | Hypoplasia of penis |
| TMEM165 (4q12) | Hypoplasia of the brainstem |
| TMEM70 (8q21.11) | Hypoplasia of the corpus callosum |
| TMX2 (11q12.1) | Hypoplasia of the pons |
| TNK2 (3q29) |
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
|
| TPK1 (7q35) | Hyporeflexia |
| TPP1 (11p15.4) | Hypotelorism |
| TRAK1 (3p22.1) | Hypotonia |
| TRAPPC4 (11q23.3) | Hypotonia with lactic acidemia and hyperammonemia |
| TRAPPC9 (8q24.3) |
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
|
| TREM2 (6p21.1) |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
|
| TREX1 (3p21.31) | Hypsarrhythmia |
| TRIM8 (10q24.32) | Immunodeficiency 47 |
| TRPM6 (9q21.13) | Immunodeficiency 95 |
| TRPV4 (12q24.11) | Immunodeficiency, common variable, 5 |
| TSC1 (9q34.13) |
Immunodeficiency, developmental delay, and hypohomocysteinemia
|
| TSC2 (16p13.3) | Inability to walk |
| TSEN54 (17q25.1) | Incoordination |
| TSFM (12q14.1) | Increased circulating lactate concentration |
| TTC19 (17p12) | Increased CSF lactate |
| TUBA1A (12q13.12) | Increased neuronal autofluorescent lipopigment |
| TUBB2A (6p25.2) |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
|
| TUBB2B (6p25.2) | Infantile convulsions and choreoathetosis |
| TUBB4A (19p13.3) | Infantile GM1 gangliosidosis |
| TUBG1 (17q21.2) | Infantile liver failure syndrome 2 |
| TUFM (16p11.2) | Infantile neuroaxonal dystrophy |
| TUSC3 (8p22) | Infantile onset spinocerebellar ataxia |
| TWNK (10q24.31) |
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
|
| TYMP (22q13.33) |
Inflammatory bowel disease, immunodeficiency, and encephalopathy
|
| TYROBP (19q13.12) |
Inmunodeficiencia ligada al cromosoma X con defecto de magnesio, infección por el virus de Epstein-Barr y neoplasia
|
| UBE2A (Xq24) | Inosine triphosphatase deficiency |
| UBE3A (15q11.2) | Insuficiencia suprarrenal |
| UFM1 (13q13.3) | Intellectual developmental disorder 60 with seizures |
| UGP2 (2p15) |
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
|
| UMPS (3q21.2) |
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
|
| UPB1 (22q11.23) |
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
|
| UQCRQ (5q31.1) |
Intellectual developmental disorder with severe speech and ambulation defects
|
| VAMP2 (17p13.1) | Intellectual developmental disorder, autosomal recessive 67 |
| VARS1 (6p21.33) | Intellectual disability |
| VARS2 (6p21.33) | Intellectual disability-epilepsy-extrapyramidal syndrome |
| PCV (9p13.3) |
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
|
| VMA12 (17q11.2) | Intellectual disability-hypotonic facies syndrome, X-linked, 1 |
| VMA22 (2q21.1) | Intellectual disability, autosomal dominant 1 |
| VPS11 (11q23.3) | Intellectual disability, autosomal dominant 13 |
| WARS2 (1p12) | Intellectual disability, autosomal dominant 20 |
| WASF1 (6q21) | Intellectual disability, autosomal dominant 24 |
| WDR37 (10 págs. 15,3) | Intellectual disability, autosomal dominant 45 |
| WDR45 (Xp11.23) | Intellectual disability, autosomal dominant 5 |
| WDR45B (17q25.3) | Intellectual disability, autosomal dominant 55, with seizures |
| WDR73 (15q25.2) | Intellectual disability, autosomal dominant 56 |
| WFS1 (4p16.1) | Intellectual disability, autosomal dominant 6 |
| WWOX (16q23.1-23.2) | Intellectual disability, autosomal dominant 8 |
| YWHAG (7q11.23) | Intellectual disability, autosomal recessive 12 |
| ZEB2 (2q22.3) | Intellectual disability, autosomal recessive 13 |
| ZFYVE26 (14q24.1) | Intellectual disability, autosomal recessive 42 |
| ZNF142 (2q35) | Intellectual disability, autosomal recessive 7 |
| ZNF335 (20q13.12) | Intellectual disability, profound |
| ADGRV1 (5q14.3) | Intellectual disability, X-linked 1 |
| ADRA2B (2q11.2) | Intellectual disability, X-linked 30 |
| AHI1 (6q23.3) | Intellectual disability, X-linked 49 |
| AKT3 (1q43-44) | Intellectual disability, X-linked 72 |
| ALDH4A1 (1p36.13) | Intellectual disability, X-linked 96 |
| AMACR (5p13.2) | Intellectual disability, X-linked, syndromic, Houge type |
| ARFGEF2 (20q13.13) |
Intellectual disability, X-linked, with or without seizures, arx-related
|
| ARHGEF15 (17p13.1) | Intestinal hypomagnesemia 1 |
| ARL13B (3q11.1-11.2) |
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
|
| ASPM (1q31.3) | Involuntary movements |
| ATIC (2q35) | Irritability |
| ATP2A2 (12q24.11) | Isolated focal cortical dysplasia type II |
| ATP6AP2 (Xp11.4) | Isolated microcephaly |
| BCKDK (16p11.2) | Isovaleryl-CoA dehydrogenase deficiency |
| BRAF (7q34) | Jaberi-Elahi syndrome |
| BRD2 (6p21.32) | Jerk-locked premyoclonus spikes |
| BUB1B (15q15.1) | Joubert syndrome 10 |
| CASK (Xp11.4) | Joubert syndrome 3 |
| CASR (3q13.33-21.1) | Joubert syndrome 5 |
| CBL (11q23.3) | Joubert syndrome 6 |
| CC2D2A (4p15.32) | Joubert syndrome 7 |
| CCDC88C (14q32.11-32.12) | Joubert syndrome 8 |
| CCL2 (17q12) | Joubert syndrome 9 |
| CEP290 (12q21.32) | Joubert syndrome with renal defect |
| CNTN2 (1q32.1) | Juvenile myelomonocytic leukemia |
| COL18A1 (21q22.3) | Juvenile myoclonic epilepsy |
| CPAP (13q12.12-12.13) | Kabuki syndrome 1 |
| CRH (8q13.1) | Kabuki syndrome 2 |
| CUL4B (Xq24) | Kahrizi syndrome |
| DYNC1H1 (14q32.31) | Keratosis follicularis |
| EMX2 (10q26.11) |
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
|
| FASN (17q25.3) | KINSSHIP syndrome |
| FGD1 (Xp11.22) | Knobloch syndrome |
| FGFR3 (4p16.3) | Koolen-de Vries syndrome |
| FKTN (9q31.2) | Krabbe disease due to saposin A deficiency |
| FLNA (Xq28) | Kufor-Rakeb syndrome |
| GATM (15q21.1) | L-2-hydroxyglutaric aciduria |
| GCSH (16q23.2) | L-ferritin deficiency |
| GLI2 (2q14.2) | Lactic acidosis |
| GLI3 (7p14.1) | Lafora disease |
| GLRA1 (5q33.1) | Landau-Kleffner syndrome |
| GLRB (4q32.1) |
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
|
| GPHN (14q23.3-24.1) | Lateral meningocele syndrome |
| GRIA3 (Xq25) | Leber congenital amaurosis 10 |
| HCN4 (15q24.1) | Legius syndrome |
| HDAC4 (2q37.2) | Leigh syndrome |
| HECW2 (2q32.3) | LEOPARD syndrome 1 |
| HPD (12q24.31) | LEOPARD syndrome 3 |
| HSD17B10 (Xp11.22) | Leucine-induced hypoglycemia |
| IRF2BPL (14q24.3) | Leucoencefalopatía hereditaria difusa con esferoides 2 |
| KANSL1 (17q21.31) | Leukocyte adhesion deficiency type II |
| KCNAB2 (1p36.31) |
Leukodystrophy and acquired microcephaly with or without dystonia;
|
| KCNH2 (7q36.1) | Leukodystrophy, hypomyelinating, 14 |
| KCNJ11 (11p15.1) | Leukodystrophy, hypomyelinating, 15 |
| KCNV2 (9p24.2) | Leukodystrophy, hypomyelinating, 16 |
| KDM5C (Xp11.22) | Leukodystrophy, hypomyelinating, 17 |
| KDM6A (Xp11.3) | Leukodystrophy, hypomyelinating, 18 |
| KIFBP (10q22.1) |
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
|
| KMT2D (12q13.12) |
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
|
| KPNA7 (7q22.1) |
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
|
| KRAS (12p12.1) |
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
|
| LBR (1q42.12) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 |
| MAPK10 (4q21.3) | Leukoencephalopathy, progressive, with ovarian failure |
| MCPH1 (8p23.1) | Levy-Hollister syndrome |
| ME2 (18q21.2) | Li-Ghorbani-Weisz-Hubshman syndrome |
| MED12 (Xq13.1) | Limb ataxia |
| NIPBL (5p13.2) | Limb-girdle muscular dystrophy due to POMK deficiency |
| NPHP1 (2q13) | Linear nevus sebaceous syndrome |
| NR2F1 (5q15) | Lipofuscinosis ceroide neuronal, 6A |
| NSD1 (5q35.3) | Lipofuscinosis ceroidea neuronal 10 |
| NTNG1 (1p13.3) | Lipofuscinosis ceroidea neuronal 13 |
| OFD1 (Xp22.2) | Lipofuscinosis ceroidea neuronal 3 |
| OPHN1 (Xq12) | Lipofuscinosis ceroidea neuronal 5 |
| PAK3 (Xq23) | Lipofuscinosis ceroidea neuronal 7 |
| PCNT (21q22.3) |
Lipofuscinosis ceroidea neuronal 8, variante de la epilepsia septentrional
|
| PHF6 (Xq26.2) | Lipofuscinosis ceroidea neuronal adulta |
| POMGNT1 (1p34.1) | Lipofuscinosis ceroidea neuronal tipo 1 |
| POMT2 (14q24.3) | Lipoic acid synthetase deficiency |
| PQBP1 (Xp11.23) | Lipoyl transferase 1 deficiency |
| PTCH1 (9q22.32) | Lisencefalia ligada al cromosoma X con genitales anormales |
| PTPN11 (12q24.13) | Lisencefalia tipo 1 debida a mutación del gen doblecortina |
| RAB39B (Xq28) | Lissencephaly 4 |
| RAB3GAP1 (2q21.3) | Lissencephaly due to LIS1 mutation |
| RBFOX1 (16p13.3) | Lissencephaly due to TUBA1A mutation |
| RBFOX3 (17q25.3) | Lissencephaly type 1 due to doublecortin gene mutation |
| ARNasa H2A (19p13.13) | Long QT syndrome 12 |
| ARNasa H2B (13q14.3) | Long QT syndrome 2 |
| ARNasa H2C (11q13.1) | Long QT syndrome 3 |
| RPGRIP1L (16q12.2) | Low anterior hairline |
| RYR3 (15q13.3-14) | Low-set ears |
| SCN10A (3p22.2) | Lung adenocarcinoma |
| SCN4A (17q23.3) | Lung carcinoma |
| SCN5A (3p22.2) | Lupus eritematoso sistémico |
| SETBP1 (18q12.3) | Lymphadenopathy |
| SHH (7q36.3) | Lymphangiomyomatosis |
| SHOC2 (10q25.2) | Lymphatic malformation 3 |
| SIX3 (2p21) | Lysinuric protein intolerance |
| SLC1A3 (5p13.2) | Lysosomal acid lipase deficiency |
| SLC25A19 (17q25.1) |
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
|
| SLC35C1 (11p11.2) | Macular dystrophy with central cone involvement |
| SLC46A1 (17q11.2) | Malignant tumor of prostate |
| SLC4A10 (2q24.2) | Malignant tumor of testis |
| SMARCA2 (9p24.3) | Malignant tumor of urinary bladder |
| SMC3 (10q25.2) | Maple syrup urine disease |
| SMS (Xp22.11) | Meckel syndrome, type 3 |
| SNAP25 (20p12.2) | Meckel syndrome, type 4 |
| SPRED1 (15q14) | Meckel syndrome, type 5 |
| SRGAP2 (1q32.1) | Meckel syndrome, type 6 |
| STIL (1p33) | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| SYP (Xp11.23) |
Megalencephalic leukoencephalopathy with subcortical cysts 1
|
| TBL1XR1 (3q26.32) |
Megalencephalic leukoencephalopathy with subcortical cysts 2A
|
| TBX1 (22q11.21) |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
|
| TMEM67 (8q22.1) | Melanoma |
| TSEN2 (3p25.2) | Melnick-Needles syndrome |
| TSEN34 (19q13.42) | Melorheostosis |
| TUBA8 (22q11.21) |
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
|
| UNC80 (2q34) | Mental deterioration |
| VPS13A (9q21.2) | Merosin deficient congenital muscular dystrophy |
| VPS13B (8q22.2) | Metachondromatosis |
| ZIC2 (13q32.3) | Metachromatic leukodystrophy |
| ANKRD11 (16q24.3) | Methylcobalamin deficiency type cblG |
| ARID1B (6q25.3) | Methylmalonic acidemia with homocystinuria, type cblX |
| ASXL3 (18q12.1) | Methylmalonic aciduria and homocystinuria type cblD |
| ATP1A3 (19q13.2) |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
|
| CACNA1I (22q13.1) | Methylmalonic aciduria, cblA type |
| CERT1 (5q13.3) | Methylmalonic aciduria, cblB type |
| Enfermedad coronaria tipo 2 (15q26.1) | MGAT2-congenital disorder of glycosylation |
| ARNCh2 (8p21.2) | Microcefalia, convulsiones y retraso del desarrollo. |
| ARNCh4 (20q13.33) |
Microcefalia, discapacidad intelectual, pérdida auditiva neurosensorial, epilepsia y síndrome de tono muscular anormal.
|
| CNKSR2 (Xp22.12) | Microcephalic osteodysplastic dysplasia, Saul-Wilson type |
| Trastorno del espectro autista (TETC) (11p15.5) | Microcephalic osteodysplastic primordial dwarfism type II |
| DDX3X (Xp11.4) | Microcephalic primordial dwarfism due to ZNF335 deficiency |
| GNB1 (1p36.33) | Microcephaly 1, primary, autosomal recessive |
| KCNQ5 (6q13) | Microcephaly 26, primary, autosomal dominant |
| NBEA (13q13.3) | Microcephaly 5, primary, autosomal recessive |
| PGAP3 (17q12) | Microcephaly 6, primary, autosomal recessive |
| PIGN (18q21.33) | Microcephaly 7, primary, autosomal recessive |
| UBA5 (3q22.1) | Microcephaly-capillary malformation syndrome |
| UGDH (4p14) |
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
|
| Microcephaly, epilepsy, and diabetes syndrome 1 | |
| Microcephaly, seizures, and developmental delay | |
| Microphthalmia, isolated, with coloboma 5 | |
| Microsíndrome de Warburg 1 | |
| Migraine | |
| Migraine, familial hemiplegic, 1 | |
| Migraine, familial hemiplegic, 2 | |
| Migraine, familial hemiplegic, 3 | |
| Mitchell syndrome | |
| Mitochondrial complex 1 deficiency, nuclear type 10 | |
| Mitochondrial complex 1 deficiency, nuclear type 11 | |
| Mitochondrial complex 1 deficiency, nuclear type 12 | |
| Mitochondrial complex 1 deficiency, nuclear type 13 | |
| Mitochondrial complex 1 deficiency, nuclear type 14 | |
| Mitochondrial complex 1 deficiency, nuclear type 15 | |
| Mitochondrial complex 1 deficiency, nuclear type 16 | |
| Mitochondrial complex 1 deficiency, nuclear type 18 | |
| Mitochondrial complex 1 deficiency, nuclear type 19 | |
| Mitochondrial complex 1 deficiency, nuclear type 2 | |
| Mitochondrial complex 1 deficiency, nuclear type 21 | |
| Mitochondrial complex 1 deficiency, nuclear type 22 | |
| Mitochondrial complex 1 deficiency, nuclear type 23 | |
| Mitochondrial complex 1 deficiency, nuclear type 25 | |
| Mitochondrial complex 1 deficiency, nuclear type 26 | |
| Mitochondrial complex 1 deficiency, nuclear type 27 | |
| Mitochondrial complex 1 deficiency, nuclear type 3 | |
| Mitochondrial complex 1 deficiency, nuclear type 4 | |
| Mitochondrial complex 1 deficiency, nuclear type 5 | |
| Mitochondrial complex 1 deficiency, nuclear type 6 | |
| Mitochondrial complex 1 deficiency, nuclear type 7 | |
| Mitochondrial complex 1 deficiency, nuclear type 8 | |
| Mitochondrial complex 1 deficiency, nuclear type 9 | |
| Mitochondrial complex 2 deficiency, nuclear type 2 | |
| Mitochondrial complex 4 deficiency, nuclear type 11 | |
| Mitochondrial complex 4 deficiency, nuclear type 12 | |
| Mitochondrial complex 4 deficiency, nuclear type 17 | |
| Mitochondrial complex 4 deficiency, nuclear type 3 | |
| Mitochondrial complex 4 deficiency, nuclear type 4 | |
| Mitochondrial complex 4 deficiency, nuclear type 7 | |
| Mitochondrial complex 4 deficiency, nuclear type 8 | |
| Mitochondrial complex I deficiency | |
| Mitochondrial complex I deficiency, nuclear type 1 | |
| Mitochondrial complex II deficiency, nuclear type 1 | |
| Mitochondrial complex III deficiency nuclear type 1 | |
| Mitochondrial complex III deficiency nuclear type 2 | |
| Mitochondrial complex III deficiency nuclear type 4 | |
| Mitochondrial complex III deficiency nuclear type 8 | |
| Mitochondrial complex IV deficiency, nuclear type 1 | |
|
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
|
|
|
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
|
|
| Mitochondrial DNA depletion syndrome 1 | |
| Mitochondrial DNA depletion syndrome 11 | |
| Mitochondrial DNA depletion syndrome 13 | |
|
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
|
|
| Mitochondrial DNA depletion syndrome 4b | |
|
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
|
|
| Mitochondrial DNA depletion syndrome 8a | |
| Mitochondrial DNA depletion syndrome 9 | |
|
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
|
|
|
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
|
|
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | |
| Mitochondrial trifunctional protein deficiency | |
| MOGS-congenital disorder of glycosylation | |
| Morfología anormal del abdomen | |
| Morfología anormal del pabellón auricular | |
| Mosaic variegated aneuploidy syndrome 1 | |
| Movement disorder | |
| Mowat-Wilson syndrome | |
| MPDU1-congenital disorder of glycosylation | |
| MPI-congenital disorder of glycosylation | |
| Mucolipidosis type II | |
| Mucolipidosis type IV | |
| Mucopolysaccharidosis type 6 | |
| Mucopolysaccharidosis type 7 | |
| Mucopolysaccharidosis, MPS-II | |
| Mucopolysaccharidosis, MPS-III-A | |
| Mucopolysaccharidosis, MPS-III-B | |
| Mucopolysaccharidosis, MPS-III-C | |
| Mucopolysaccharidosis, MPS-III-D | |
| Mucopolysaccharidosis, MPS-IV-A | |
| Mucopolysaccharidosis, MPS-IV-B | |
| Muenke syndrome | |
| Multiple acyl-CoA dehydrogenase deficiency | |
| Multiple congenital anomalies | |
|
Multiple congenital anomalies-hypotonia-seizures syndrome 2
|
|
| Multiple mitochondrial dysfunctions syndrome 1 | |
| Multiple mitochondrial dysfunctions syndrome 2 | |
| Multiple mitochondrial dysfunctions syndrome 3 | |
| Multiple mitochondrial dysfunctions syndrome 4 | |
| Multiple mitochondrial dysfunctions syndrome 6 | |
| Multiple sulfatase deficiency | |
| Multiple system atrophy | |
| Multiple system atrophy 1, susceptibility to | |
| Muscle eye brain disease | |
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
|
|
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
|
|
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
|
|
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
|
|
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
|
|
|
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
|
|
|
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
|
|
|
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
|
|
|
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
|
|
|
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
|
|
| Muscular dystrophy-dystroglycanopathy type B5 | |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | |
| Mycobacterium tuberculosis, susceptibility to | |
| Myelodysplastic syndrome | |
| Myoclonic dystonia 11 | |
| Myoclonic epilepsy, juvenile, susceptibility to, 1 | |
| Myoclonus | |
| Myofibrillar myopathy 3 | |
| Myofibromatosis, infantile, 2 | |
| Myopathy, reducing body, X-linked, early-onset, severe | |
| Myopia 6 | |
| NAD(P)HX dehydratase deficiency | |
| Narrow forehead | |
| Nausea and vomiting | |
| NDE1-related microhydranencephaly | |
| Neonatal pseudo-hydrocephalic progeroid syndrome | |
| Neonatal severe primary hyperparathyroidism | |
| Neonatal-onset encephalopathy with rigidity and seizures | |
| Neoplasia testicular | |
| Neoplasm of esophagus | |
| Neoplasm of stomach | |
| Nephroblastoma | |
| Nephronophthisis 1 | |
| Nephronophthisis 11 | |
| Nephropathic cystinosis | |
| Neu-Laxova syndrome 1 | |
| Neural tube defect | |
| Neural tube defects, folate-sensitive | |
|
Neurodegeneración con acumulación de hierro en el cerebro 5
|
|
| Neurodegeneration with brain iron accumulation 2B | |
| Neurodegeneration with brain iron accumulation 5 | |
|
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
|
|
|
Neurodevelopmental disorder with absent language and variable seizures
|
|
|
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
|
|
|
Neurodevelopmental disorder with dysmorphic facies and variable seizures
|
|
|
Neurodevelopmental disorder with epilepsy and hemochromatosis
|
|
|
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
|
|
|
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
|
|
|
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
|
|
|
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
|
|
| Neurodevelopmental disorder with involuntary movements | |
|
Neurodevelopmental disorder with language impairment and behavioral abnormalities
|
|
|
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
|
|
|
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
|
|
|
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
|
|
|
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
|
|
|
Neurodevelopmental disorder with severe motor impairment and absent language
|
|
|
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
|
|
| Neurofibromatosis-Noonan syndrome | |
| Neurofibromatosis, familial spinal | |
| Neurofibromatosis, type 1 | |
| Neuronal ceroid lipofuscinosis | |
| Neuronal ceroid lipofuscinosis 1 | |
| Neuronal ceroid lipofuscinosis 10 | |
| Neuronal ceroid lipofuscinosis 11 | |
| Neuronal ceroid lipofuscinosis 13 | |
| Neuronal ceroid lipofuscinosis 2 | |
| Neuronal ceroid lipofuscinosis 3 | |
| Neuronal ceroid lipofuscinosis 5 | |
| Neuronal ceroid lipofuscinosis 7 | |
| Neuronal ceroid lipofuscinosis 8 | |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | |
| Neuronal loss in central nervous system | |
| Neurooculocardiogenitourinary syndrome | |
| Neuropathy, congenital hypomyelinating, 3 | |
| Neuropatía atáxica sensorial, disartria y oftalmoparesia | |
| Nicolaides-Baraitser syndrome | |
| Niemann-Pick disease, type B | |
| Niemann-Pick disease, type C1 | |
| Niemann-Pick disease, type C2 | |
| Non-small cell lung carcinoma | |
| Noonan syndrome 1 | |
| Noonan syndrome 3 | |
| Noonan syndrome 7 | |
| Noonan syndrome-like disorder with loose anagen hair 1 | |
| Norman-Roberts syndrome | |
| Nystagmus | |
| O’Donnell-Luria-Rodan syndrome | |
| Obesity | |
|
Oftalmoplejía externa progresiva con deleciones de ADN mitocondrial, autosómica dominante 1
|
|
|
Oftalmoplejía externa progresiva con deleciones de ADN mitocondrial, autosómica recesiva 1
|
|
| Open mouth | |
| Ophthalmoparesis | |
| Ophthalmoplegia | |
| Optic atrophy | |
|
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
|
|
| Optic atrophy 3 | |
| Ornithine aminotransferase deficiency | |
| Ornithine carbamoyltransferase deficiency | |
| Orofaciodigital syndrome I | |
| Oroticaciduria | |
| Oto-palato-digital syndrome, type I | |
| Oto-palato-digital syndrome, type II | |
| Ovarian neoplasm | |
| Pallister-Hall syndrome | |
| Papillon-Lefèvre syndrome | |
| Paragangliomas 5 | |
| Paramyotonia congenita of Von Eulenburg | |
| Parkinsonism-dystonia 3, childhood-onset | |
| Paroxysmal extreme pain disorder | |
| Paroxysmal nocturnal hemoglobinuria | |
| Paroxysmal nocturnal hemoglobinuria 2 | |
| Partington syndrome | |
| Patrón anormal de respiración | |
| Patrón de habla anormal | |
| PEHO-like syndrome | |
| Pelger-Huët anomaly | |
| Pelizaeus-Merzbacher disease | |
| Pendred syndrome | |
| Pérdida auditiva autosómica dominante no sindrómica 13 | |
| Pérdida auditiva autosómica dominante no sindrómica 6 | |
| Pérdida auditiva no sindrómica autosómica dominante 1 | |
| Pérdida de peso | |
| Periorbital fullness | |
|
Periventricular heterotopia with microcephaly, autosomal recessive
|
|
| Periventricular nodular heterotopia 7 | |
| Permanent neonatal diabetes mellitus | |
| Peroxisome biogenesis disorder 10A (Zellweger) | |
| Peroxisome biogenesis disorder 10B | |
| Peroxisome biogenesis disorder 11A (Zellweger) | |
| Peroxisome biogenesis disorder 12A (Zellweger) | |
| Peroxisome biogenesis disorder 13A (Zellweger) | |
| Peroxisome biogenesis disorder 14B | |
| Peroxisome biogenesis disorder 1A (Zellweger) | |
| Peroxisome biogenesis disorder 1B | |
| Peroxisome biogenesis disorder 2A (Zellweger) | |
| Peroxisome biogenesis disorder 2B | |
| Peroxisome biogenesis disorder 3A (Zellweger) | |
| Peroxisome biogenesis disorder 4A (Zellweger) | |
| Peroxisome biogenesis disorder 4B | |
| Peroxisome biogenesis disorder 5A (Zellweger) | |
| Peroxisome biogenesis disorder 5B | |
| Peroxisome biogenesis disorder 6B | |
| Peroxisome biogenesis disorder 7A (Zellweger) | |
| Peroxisome biogenesis disorder 7B | |
| Peroxisome biogenesis disorder 8B | |
| Peroxisome biogenesis disorder 9B | |
| Perrault syndrome 3 | |
| Personality disorder | |
| Peters plus syndrome | |
| PGM1-congenital disorder of glycosylation | |
| Phenylketonuria | |
| Pheochromocytoma | |
| Phosphoribosylpyrophosphate synthetase superactivity | |
| Phytanic acid storage disease | |
| Pigmentary pallidal degeneration | |
| Pili torti-deafness syndrome | |
| Pitt-Hopkins syndrome | |
| Pitt-Hopkins-like syndrome 2 | |
| PMM2-congenital disorder of glycosylation | |
| Poirier-Bienvenu neurodevelopmental syndrome | |
| Polimicrogiria frontoparietal bilateral | |
| Polimicrogiria parietooccipital parasagital bilateral | |
| Poliodistrofia esclerosante progresiva | |
|
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
|
|
|
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
|
|
| Polymicrogyria with optic nerve hypoplasia | |
| Polymicrogyria, bilateral perisylvian, autosomal recessive | |
| Polysyndactyly 4 | |
| Pontocerebellar hypoplasia type 10 | |
| Pontocerebellar hypoplasia type 2A | |
| Pontocerebellar hypoplasia type 2B | |
| Pontocerebellar hypoplasia type 2C | |
| Pontocerebellar hypoplasia type 2D | |
| Pontocerebellar hypoplasia type 4 | |
| Pontocerebellar hypoplasia type 6 | |
| Pontocerebellar hypoplasia type 9 | |
| Pontocerebellar hypoplasia, type 12 | |
| Porencephaly 2 | |
|
Porencephaly-microcephaly-bilateral congenital cataract syndrome
|
|
| Postaxial polydactyly | |
|
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
|
|
| Posteriorly rotated ears | |
| Potassium-aggravated myotonia | |
| Premature chromatid separation trait | |
| Primary adrenocortical insufficiency | |
| Primary erythromelalgia | |
| Primary hypomagnesemia | |
| Primitive reflex | |
| Progressive | |
|
Progressive demyelinating neuropathy with bilateral striatal necrosis
|
|
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
|
|
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
|
|
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
|
|
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
|
|
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
|
|
| Progressive familial heart block, type 1A | |
| Progressive microcephaly | |
| Progressive myoclonic epilepsy | |
| Progressive myoclonic epilepsy type 3 | |
| Progressive myoclonic epilepsy type 5 | |
| Progressive myoclonic epilepsy type 6 | |
| Progressive myoclonic epilepsy type 7 | |
| Progressive myoclonic epilepsy type 8 | |
| Progressive sclerosing poliodystrophy | |
| Proline dehydrogenase deficiency | |
| Propionic acidemia | |
| Pseudo-TORCH syndrome 1 | |
|
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
|
|
| Psychotic disorder | |
| Ptosis | |
| Puente nasal ancho | |
| Pulmonary hypertension, neonatal, susceptibility to | |
|
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
|
|
| Pyknodysostosis | |
| Pyridoxal phosphate-responsive seizures | |
| Pyridoxine-dependent epilepsy | |
| Pyruvate carboxylase deficiency | |
| Pyruvate dehydrogenase complex deficiency | |
| Pyruvate dehydrogenase E1-alpha deficiency | |
| Pyruvate dehydrogenase E1-beta deficiency | |
| Pyruvate dehydrogenase E2 deficiency | |
| Pyruvate dehydrogenase E3 deficiency | |
| Pyruvate dehydrogenase E3-binding protein deficiency | |
| Pyruvate dehydrogenase phosphatase deficiency | |
| Rafiq syndrome | |
| Rajab interstitial lung disease with brain calcifications 1 | |
| Rauch-Steindl syndrome | |
|
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
|
|
| Recurrent infections | |
| Reduced bone mineral density | |
| Reduced eye contact | |
| Renal carnitine transport defect | |
| Renal hypomagnesemia 2 | |
| Renal hypomagnesemia 4 | |
| Renal hypomagnesemia 5 with ocular involvement | |
| Renpenning syndrome | |
| Respiratory failure | |
| Respiratory insufficiency | |
| Retinal degeneration | |
|
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
|
|
| Retinitis pigmentosa | |
| Retinitis pigmentosa 23 | |
| Retinitis pigmentosa 50 | |
| Retinitis pigmentosa 59 | |
| Retinitis pigmentosa 73 | |
| Rett syndrome | |
| Rett syndrome, congenital variant | |
| Reynolds syndrome | |
| RFT1-congenital disorder of glycosylation | |
| Rhizomelic chondrodysplasia punctata type 1 | |
| Rhizomelic chondrodysplasia punctata type 2 | |
| Rhizomelic chondrodysplasia punctata type 3 | |
| Rigidity | |
|
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer’s cramp syndrome
|
|
| Salla disease | |
| Sandhoff disease | |
| Schinzel-Giedion syndrome | |
| Schizencephaly | |
| Schizophrenia | |
| Schizophrenia 4 | |
| Scoliosis | |
| Seckel syndrome 4 | |
| Secondary growth hormone deficiency | |
| Seizure | |
| Seizures, benign familial infantile, 2 | |
| Seizures, benign familial infantile, 3 | |
| Seizures, benign familial infantile, 5 | |
| Seizures, benign familial neonatal, 1 | |
| Seizures, benign familial neonatal, 2 | |
| Self-injurious behavior | |
| Senior-Loken syndrome 1 | |
| Senior-Loken syndrome 6 | |
| Sensorineural hearing loss disorder | |
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
|
| Severe combined immunodeficiency due to LAT deficiency | |
|
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
|
|
|
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
|
|
| Severe myoclonic epilepsy in infancy | |
| Severe neonatal-onset encephalopathy with microcephaly | |
| Short philtrum | |
| Short QT syndrome type 1 | |
|
Short stature-brachydactyly-obesity-global developmental delay syndrome
|
|
| Short toe | |
| Sialic acid storage disease, severe infantile type | |
| Sialidosis type 2 | |
| Sialuria | |
| Sick sinus syndrome 1 | |
| Sick sinus syndrome 2, autosomal dominant | |
| Simplified gyral pattern | |
| Simpson-Golabi-Behmel syndrome type 1 | |
| Simpson-Golabi-Behmel syndrome type 2 | |
| Síndrome amelocerebrohipohidrótico | |
| Síndrome cardiofaciocutáneo 4 | |
| Síndrome de Aarskog | |
| Síndrome de Adams-Oliver 1 | |
| Síndrome de Adams-Oliver 2 | |
| Síndrome de Aicardi-Goutieres 1 | |
| Síndrome de Aicardi-Goutieres 2 | |
| Síndrome de Aicardi-Goutieres 3 | |
| Síndrome de Aicardi-Goutieres 4 | |
| Síndrome de Aicardi-Goutieres 5 | |
| Síndrome de Aicardi-Goutieres 6 | |
| Síndrome de alacrima, acalasia y discapacidad intelectual | |
| Síndrome de Alkuraya-Kucinskas | |
| Síndrome de Allan-Herndon-Dudley | |
| Síndrome de Angelman | |
|
Síndrome de anomalías congénitas múltiples, hipotonía y convulsiones 1
|
|
|
Síndrome de anomalías congénitas múltiples, hipotonía y convulsiones 2
|
|
|
Síndrome de anomalías congénitas múltiples, hipotonía y convulsiones 3
|
|
| Síndrome de ataxia-telangiectasia | |
|
Síndrome de atrofia muscular espinal-epilepsia mioclónica progresiva
|
|
| Síndrome de Ayme-Gripp | |
| Síndrome de Coffin-Siris 1 | |
| Síndrome de depleción del ADN mitocondrial 1 | |
|
Síndrome de discapacidad intelectual ligada al cromosoma X-hipoplasia cerebelosa
|
|
|
Síndrome de discapacidad intelectual ligado al cromosoma X y alfa talasemia
|
|
|
Síndrome de discapacidad intelectual relacionado con DYRK1A
|
|
|
Síndrome de discapacidad intelectual, psicosis y macroorquidismo ligado al cromosoma X
|
|
| Síndrome de displasia ósea terminal-defectos pigmentarios | |
|
Síndrome de hipotonía-convulsiones-encefalopatía neonatal grave relacionado con PURA
|
|
| Síndrome de KBG | |
| Síndrome de Kenny-Caffey autosómico recesivo | |
| Síndrome de la piel arrugada | |
| Síndrome de Landau-Kleffner | |
| Síndrome de miocardiopatía-hipotonía-acidosis láctica | |
| Síndrome de mioclono-insuficiencia renal | |
| Síndrome de Mowat-Wilson | |
|
Síndrome de parkinsonismo-espasticidad ligado al cromosoma X
|
|
| Síndrome de Pitt-Hopkins | |
| síndrome de Rett | |
| Síndrome de Rett, variante congénita | |
| Síndrome de Robinow autosómico recesivo | |
| Síndrome de sensibilidad a los rayos UV 2 | |
| Síndrome de Sotos | |
| Síndrome de Sturge-Weber | |
| Síndrome de Temple-Baraitser | |
| Síndrome de Temtamy | |
| Síndrome de Treacher Collins 3 | |
| Síndrome de Troyer | |
| Síndrome de Unverricht-Lundborg | |
| Síndrome de Usher tipo 1F | |
| Síndrome de Usher tipo 2C | |
| Síndrome de Vici | |
| Síndrome de Waardenburg tipo 2E | |
| Síndrome de Weill-Marchesani 1 | |
| Síndrome de Woodhouse-Sakati | |
| Síndrome del incisivo central maxilar medio solitario | |
| Síndrome miasténico congénito 18 | |
| Síndrome velocardiofacial | |
| Síndrome ZTTK | |
| Sjögren-Larsson syndrome | |
| SLC35A1-congenital disorder of glycosylation | |
| SLC35A2-congenital disorder of glycosylation | |
| SLC35A2: trastorno congénito de la glicosilación | |
| SLC39A8-CDG | |
| Sleep abnormality | |
| Sloping forehead | |
| Smith-Lemli-Opitz syndrome | |
| Smith-Magenis syndrome | |
| Smith-McCort dysplasia 1 | |
| Spastic ataxia 5 | |
| Spastic paraplegia 81, autosomal recessive | |
| Spastic paraplegia 82, autosomal recessive | |
|
Spastic paraplegia-severe developmental delay-epilepsy syndrome
|
|
|
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
|
|
| Sphingolipid activator protein 1 deficiency | |
| Spinocerebellar ataxia 47 | |
| Spinocerebellar ataxia type 23 | |
| Spinocerebellar ataxia, autosomal recessive 23 | |
| SSR4-congenital disorder of glycosylation | |
| STT3A-congenital disorder of glycosylation | |
| SUDDEN INFANT DEATH SYNDROME | |
| Susceptibilidad a la infección por VIH | |
| Telecanto | |
| Temblor | |
| Tetralogía de Fallot | |
| Tetraplejia | |
| Tirosinemia tipo I | |
| Tirosinemia tipo III | |
| TMEM165 – trastorno congénito de la glicosilación | |
| TMEM199-CDG | |
| Trastorno congénito de la glicosilación ALG8 | |
| Trastorno congénito de la glicosilación ALG9 | |
| Trastorno congénito de la glicosilación COG1 | |
| Trastorno congénito de la glicosilación COG7 | |
| Trastorno del movimiento estereotipado | |
| Tricotiodistrofia 5, no fotosensible | |
| Trombofilia | |
| Trombofilia debida a la resistencia a la proteína C activada | |
| Trombofilia por defecto de la trombina | |
| Tumor de Wilms 1 |
Panel Tamiz metabólico más ADNFarma
Se analizan 1,721 genes asociados a mas de 1,556 condiciones asociadas a las enfermedades metabólicas, mitocondrias nucleares y lisosomales. Este estudio incluye un estudio de farmacogenetica, ADNFarma.
Identificar las enfermedades metabólicas de origen genético es crucial para identificar un correcto tratamiento. estas enfermedades son causadas por mutaciones genéticas que afectan el procesamiento de nutrientes, la producción de energía o la eliminación de sustancias tóxicas.
$18,100 MN
Panel de genes Metabolico
Tabla de genes y condiciones
| GENES | CONDICIONES |
| A2ML1 | Acalasia |
| AAAS |
Aciduria 2-aminoadípica 2-oxoadípica
|
| AARS2 | aciduria 2-hidroxiglutárica |
| AASS | Aciduria 3-metilglutacónica tipo 1 |
| ABAT | Aciduria 3-metilglutacónica tipo 2 |
| ABCA12 | Aciduria 3-metilglutacónica tipo 3 |
| ABCA3 | Aciduria 3-metilglutacónica tipo 5 |
| ABCA4 |
Aciduria 3-metilglutacónica, tipo VIIB
|
| ABCB11 | Aciduria D-2-hidroxiglutárica 1 |
| ABCB4 | Aciduria D-2-hidroxiglutárica 2 |
| ABCB6 | Acondrogénesis tipo II |
| ABCB7 |
Adicción al tabaco, susceptibilidad al mismo
|
| ABCC2 | Adrenoleucodistrofia |
| ABCC8 | AICA-ribosiduria |
| ABCC9 | Alacrima |
| ABCD1 |
ALG1: trastorno congénito de la glicosilación
|
| ABCD3 |
ALG11 – trastorno congénito de la glicosilación
|
| ABCD4 |
ALG12: trastorno congénito de la glicosilación
|
| ABHD5 |
ALG2: trastorno congénito de la glicosilación
|
| ACAD8 |
ALG3: trastorno congénito de la glicosilación
|
| ACAD9 |
ALG6-trastorno congénito de la glicosilación 1C
|
| ACADL | Alucinación visual |
| ACADM | Aminoaciduria |
| ACADS | Aminoglycoside-induced deafness |
| ACADSB | Amish lethal microcephaly |
| ACADVL | Amplia distancia intermamilar |
| ACAN | Anauxetic dysplasia 1 |
| ACAT1 | Andersen Tawil syndrome |
| ACO2 | Anemia |
| ACOX1 |
Anemia megaloblástica constitucional con enfermedad neurológica grave
|
| ACP5 |
Anemia sideroblástica ligada al cromosoma X 1
|
| ACSF3 |
Anemia sideroblástica ligada al cromosoma X con ataxia
|
| ACTA1 |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
|
| ACTB | Angelman syndrome |
| ACTC1 | Anisocoria |
| ACTG1 |
Anormalidad de la cascada de coagulación
|
| ACTG2 |
Anormalidad de la función motora extrapiramidal
|
| ACTN2 | Anormalidad de la musculatura |
| ACVR1 | Anormalidad de la nariz |
| ACVR2B | Anormalidad de la piel |
| ACVRL1 |
Anormalidad de la pigmentación de la retina
|
| ACY1 | Anormalidad de la voz |
| ADA | Anormalidad de los neutrófilos |
| ADAMTS10 |
Anormalidad del eje hipotálamo-hipofisario
|
| ADAMTS13 |
Anormalidad del metabolismo mitocondrial
|
| ADAMTSL2 |
Anormalidad del metabolismo/homeostasis
|
| ADAR | Anormalidad del sistema respiratorio |
| ADAT3 |
Anormalidad del tracto gastrointestinal
|
| ADCY5 | Anterior creases of earlobe |
| ADCY6 | Anterior hypopituitarism |
| ADGRG1 | Anterior segment dysgenesis 3 |
| ADK | Anteverted nares |
| ADNP | Aplasia cutis congenita |
| ADSL | Aplasia/Hypoplasia affecting the eye |
| AGA |
Aplasia/Hypoplasia involving the central nervous system
|
| AGK |
Aplasia/Hypoplasia of the cerebellum
|
| AGL |
Aplasia/Hypoplasia of the corpus callosum
|
| AGPAT2 | Aplasia/Hypoplasia of the skin |
| AGPS | Apnea |
| AGRN | Apnea, central sleep |
| AGXT | Areflexia |
| AHCY | Arginase deficiency |
| AHDC1 |
Arginine:glycine amidinotransferase deficiency
|
| AHI1 | Argininosuccinate lyase deficiency |
| AIFM1 |
Arrhythmogenic right ventricular dysplasia 2
|
| AIMP1 | Arritmia cardíaca |
| AIPL1 | Arthrogryposis multiplex congenita |
| AK2 | Arts syndrome |
| AKR1D1 | Aspartilglucosaminuria |
| AKT2 |
Ataxia autosómica recesiva por deficiencia de ubiquinona
|
| AKT3 |
Ataxia de inicio temprano con apraxia oculomotora e hipoalbuminemia
|
| ALAD | Ataxia espinocerebelosa 7 |
| ALAS2 |
Ataxia espinocerebelosa autosómica recesiva 10
|
| ALDH18A1 |
Ataxia espinocerebelosa autosómica recesiva 7
|
| ALDH1A2 |
Ataxia espinocerebelosa autosómica recesiva con neuropatía axonal 1
|
| ALDH3A2 | Ataxia espinocerebelosa tipo 28 |
| ALDH4A1 | Ataxia espinocerebelosa tipo 6 |
| ALDH5A1 |
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
|
| ALDH7A1 | Atelosteogénesis tipo I |
| ALDOA | Atelosteogénesis tipo III |
| ALDOB | Atetosis |
| ALG1 | Athetosis |
| ALG11 | Atrial fibrillation, familial, 10 |
| ALG12 | Atrial fibrillation, familial, 12 |
| ALG13 | Atrial fibrillation, familial, 13 |
| ALG14 | Atrial fibrillation, familial, 3 |
| ALG2 | Atrial fibrillation, familial, 4 |
| ALG3 | Atrial fibrillation, familial, 9 |
| ALG6 | Atrial septal defect |
| ALG8 |
Atrofia muscular espinal distal ligada al cromosoma X tipo 3
|
| ALG9 |
Atrofia óptica autosómica dominante, forma clásica
|
| ALK |
Atrofia óptica autosómica recesiva, tipo OPA7
|
| ALMS1 |
Attention deficit hyperactivity disorder
|
| ALOX12B |
Attention deficit-hyperactivity disorder, susceptibility to, 7
|
| ALOXE3 | Auditory hallucination |
| ALPL | Ausencia de habla |
| AMACR | Autism, susceptibility to, X-linked 3 |
| AMER1 |
Autoimmune lymphoproliferative syndrome type 2B
|
| AMPD1 |
Autosomal dominant centronuclear myopathy
|
| AMPD2 | Autosomal dominant inheritance |
| AMT |
Autosomal dominant nocturnal frontal lobe epilepsy 1
|
| ANK1 |
Autosomal dominant nocturnal frontal lobe epilepsy 3
|
| ANKH |
Autosomal dominant nonsyndromic hearing loss 6
|
| ANKRD1 |
Autosomal dominant nonsyndromic hearing loss 64
|
| ANKRD11 |
Autosomal dominant optic atrophy classic form
|
| ANO6 | Autosomal dominant osteopetrosis 2 |
| ANTXR1 |
Autosomal dominant Parkinson disease 8
|
| AP1S1 |
Autosomal recessive cutis laxa type 2B
|
| AP2S1 |
Autosomal recessive early-onset Parkinson disease 6
|
| AP3B1 |
Autosomal recessive nonsyndromic hearing loss 89
|
| AP4B1 |
Autosomal recessive optic atrophy, OPA7 type
|
| AP4E1 |
Autosomal recessive osteopetrosis 1
|
| AP4M1 |
Autosomal recessive osteopetrosis 4
|
| AP4S1 |
Autosomal recessive spinocerebellar ataxia 7
|
| APOC2 | Axenfeld-Rieger syndrome type 3 |
| APRT | Axial hypotonia |
| APTX | B-cell lymphoma |
| AQP2 |
B4GALT1-congenital disorder of glycosylation
|
| ARFGEF2 |
B4GALT1: trastorno congénito de la glicosilación
|
| ARG1 | Babinski sign |
| ARHGAP31 | Bartter disease type 3 |
| ARHGDIA | Bartter disease type 4B |
| ARHGEF9 | Beckwith-Wiedemann syndrome |
| ARID1A |
Benign recurrent intrahepatic cholestasis type 1
|
| ARID1B |
Benign recurrent intrahepatic cholestasis type 2
|
| ARL13B | Beta-D-manosidosis |
| ARL6 |
Bifunctional peroxisomal enzyme deficiency
|
| ARRDC4 |
Biotin-responsive basal ganglia disease
|
| ARSA | Boca abierta de forma triangular |
| ARSL |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4
|
| ARX | Borde bermellón grueso |
| ASAH1 |
Bosch-Boonstra-Schaaf optic atrophy syndrome
|
| ASCL1 | Bowel incontinence |
| ASL | Brachycephaly |
| ASNS | Bradycardia |
| ASPA | Bradykinesia |
| ASPM | Brain atrophy |
| ASS1 | Brainstem dysplasia |
| ASXL1 | Braquicefalia |
| ASXL3 | Breast cancer, early-onset |
| ATIC | Brittle hair |
| ATM |
Bronchiectasis with or without elevated sweat chloride 1
|
| ATP1A2 | Brugada syndrome |
| ATP1A3 | Brugada syndrome 1 |
| ATP2B3 | Brugada syndrome 5 |
| ATP5F1A | Brunner syndrome |
| ATP5F1E | Brushfield spots |
| ATP6AP2 | Calcificación condral punteada |
| ATP6V0A2 | Cáncer de tiroides no medular, 2 |
| ATP6V1B1 | Carcinoid tumor of intestine |
| ATP7A |
Carcinoma adrenocortical hereditario
|
| ATP8A2 | carcinoma de células escamosas |
| ATP8B1 |
Carcinoma de células transicionales de vejiga
|
| ATPAF2 | Carcinoma of colon |
| ATR | Cardiac arrest |
| ATRX | Cardiac arrhythmia |
| AUH |
Cardiac arrhythmia, ankyrin-B-related
|
| B3GALNT2 |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
|
| B3GAT3 |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
|
| B3GLCT | Cardiomyopathy |
| B4GALT1 |
Cardiomyopathy-hypotonia-lactic acidosis syndrome
|
| B4GALT7 | Carney-Stratakis syndrome |
| B4GAT1 |
Carnitine acylcarnitine translocase deficiency
|
| B9D1 |
Carnitine palmitoyl transferase 1A deficiency
|
| BBIP1 |
Carnitine palmitoyl transferase II deficiency, myopathic form
|
| BCKDHA |
Carnitine palmitoyl transferase II deficiency, neonatal form
|
| BCKDHB |
Carnitine palmitoyl transferase II deficiency, severe infantile form
|
| BCKDK | Cataract |
| BCOR | Cataract 38 |
| BCS1L | Cataract 41 |
| BICD2 |
Catecholaminergic polymorphic ventricular tachycardia
|
| BIN1 | Cejas gruesas |
| BLK | Central core myopathy |
| BLM | Cerebellar atrophy |
| BLNK | Cerebellar vermis atrophy |
| BLOC1S6 | Cerebellar vermis hypoplasia |
| BMP1 | Cerebral atrophy |
| BMP2 | Cerebral cortical atrophy |
| BMP4 | Cerebral folate transport deficiency |
| BMPR1B | Cerebral visual impairment |
| BMPR2 | Ceroid lipofuscinosis, neuronal, 6A |
| BOLA3 | Charcot-Marie-Tooth disease |
| BPNT2 |
Charcot-Marie-Tooth disease axonal type 2K
|
| BRAF |
Charcot-Marie-Tooth disease axonal type 2N
|
| BRAT1 |
Charcot-Marie-Tooth disease dominant intermediate B
|
| BRCA2 |
Charcot-Marie-Tooth disease recessive intermediate A
|
| BRIP1 |
Charcot-Marie-Tooth disease recessive intermediate B
|
| BSCL2 |
Charcot-Marie-Tooth disease type 2A1
|
| BSND |
Charcot-Marie-Tooth disease type 2A2
|
| BTD |
Charcot-Marie-Tooth disease type 2B1
|
| BTK |
Charcot-Marie-Tooth disease type 2D
|
| BUB1B |
Charcot-Marie-Tooth disease type 4A
|
| C12orf57 |
Charcot-Marie-Tooth disease type 4G
|
| CA12 |
Charcot-Marie-Tooth disease X-linked recessive 4
|
| CA2 |
Charcot-Marie-Tooth disease X-linked recessive 5
|
| CA5A |
Charcot-Marie-Tooth disease, axonal type
|
| CA8 |
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
|
| CABP4 | Charlevoix-Saguenay spastic ataxia |
| CACNA1D | Chest pain |
| CACNA1F | Chilblain lupus 1 |
| CACNA1S | Chilblain lupus 2 |
| CACNA2D2 |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
|
| CALM3 |
Childhood onset GLUT1 deficiency syndrome 2
|
| CANT1 | Childhood-onset truncal obesity |
| CARD11 | Cholestanol storage disease |
| CASK |
Cholestasis, intrahepatic, of pregnancy, 1
|
| CASP10 |
Cholestasis, intrahepatic, of pregnancy, 3
|
| CASR | Chorea |
| CAV1 | Choreoathetosis |
| CAVIN1 | Chorioretinal coloboma |
| CBL | Choroid plexus carcinoma |
| CBS |
Chromosome 2p16.3 deletion syndrome
|
| CC2D2A | Cirrhosis of liver |
| CCDC103 | Cistinuria |
| CCDC22 | Citrulinemia tipo I |
| CCDC39 |
Citrulinemia, tipo II, inicio en la edad adulta
|
| CCDC40 | Citrullinemia type I |
| CCDC65 | Citrullinemia type II |
| CCDC78 | Classic homocystinuria |
| CCDC8 | Cleft palate |
| CCDC88C | Clinodactyly |
| CCND2 | Clubbing |
| CCNO | Clubfoot |
| CCS | CNS demyelination |
| CCT5 | CNS hypomyelination |
| CD151 | Coarse facial features |
| CD19 | Cobalamin C disease |
| CD247 | Coenzyme Q10 deficiency |
| CD27 |
Coenzyme Q10 deficiency, primary, 1
|
| CD320 |
Coenzyme Q10 deficiency, primary, 3
|
| CD3D |
COG4-congenital disorder of glycosylation
|
| CD3E |
COG4: trastorno congénito de la glicosilación
|
| CD59 |
COG5-congenital disorder of glycosylation
|
| CD79A |
COG5: trastorno congénito de la glicosilación
|
| CD79B |
COG6-congenital disorder of glycosylation
|
| CD81 |
COG6: trastorno congénito de la glicosilación
|
| CDAN1 |
COG7 congenital disorder of glycosylation
|
| CDC6 |
COG8-congenital disorder of glycosylation
|
| CDH3 |
COG8: trastorno congénito de la glicosilación
|
| CDIN1 | Cognitive impairment |
| CDK5RAP2 | Coloboma of optic nerve |
| CDK6 |
Combined deficiency of sialidase AND beta galactosidase
|
| CDKL5 |
Combined malonic and methylmalonic acidemia
|
| CDKN1C |
Combined molybdoflavoprotein enzyme deficiency
|
| CDON |
Combined oxidative phosphorylation defect type 14
|
| CDT1 |
Combined oxidative phosphorylation defect type 15
|
| CENPJ |
Combined oxidative phosphorylation defect type 17
|
| CEP135 |
Combined oxidative phosphorylation defect type 2
|
| CEP152 |
Combined oxidative phosphorylation defect type 4
|
| CEP290 |
Combined oxidative phosphorylation defect type 7
|
| CEP41 |
Combined oxidative phosphorylation defect type 8
|
| CEP63 |
Combined oxidative phosphorylation defect type 9
|
| CERS3 |
Combined oxidative phosphorylation deficiency
|
| CFAP298 | Combined PSAP deficiency |
| CFTR |
Complejo esclerosis lateral amiotrófica-parkinsonismo-demencia
|
| CHAT | comportamiento agresivo |
| CHD2 | Compresión de la médula espinal |
| CHD7 | Compulsive behaviors |
| CHKB | Concave nasal ridge |
| CHMP1A |
Condrodisplasia punctata rizomélica tipo 1
|
| CHN1 |
Condrodisplasia punctata rizomélica tipo 2
|
| CHRDL1 | Conduction disorder of the heart |
| CHRNA1 | Cone-rod dystrophy |
| CHRNA4 |
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
|
| CHRNA7 |
Congenital bilateral aplasia of vas deferens from CFTR mutation
|
| CHRNB1 |
Congenital bile acid synthesis defect 4
|
| CHRND |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
|
| CHRNE | Congenital cerebellar hypoplasia |
| CHRNG |
Congenital defect of folate absorption
|
| CHST14 | Congenital diaphragmatic hernia |
| CHST3 | Congenital disorder of glycosylation |
| CHST8 |
Congenital disorder of glycosylation type 1E
|
| CHSY1 |
Congenital disorder of glycosylation type Ir
|
| CILK1 |
Congenital dyserythropoietic anemia, type II
|
| CITED2 |
Congenital generalized lipodystrophy type 1
|
| CLCN1 |
Congenital generalized lipodystrophy type 2
|
| CLCN4 |
Congenital generalized lipodystrophy type 3
|
| CLCN5 | Congenital hip dislocation |
| CLCN7 | Congenital hyperammonemia, type I |
| CLCNKB | Congenital lactic acidosis |
| CLDN1 |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
|
| CLDN19 |
Congenital lipoid adrenal hyperplasia due to STAR deficency
|
| CLIC2 |
Congenital multicore myopathy with external ophthalmoplegia
|
| CLMP |
Congenital muscular dystrophy due to LMNA mutation
|
| CLN3 | Congenital myasthenic syndrome 13 |
| CLN5 | Congenital myasthenic syndrome 16 |
| CLN6 |
Congenital myopathy with fiber type disproportion
|
| CLN8 |
Congenital myotonia, autosomal dominant form
|
| CLP1 |
Congenital myotonia, autosomal recessive form
|
| CLPB |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
|
| CLPP | Congestive heart failure |
| CNNM2 | Constipation |
| CNTN1 | Convex nasal ridge |
| CNTNAP1 | Convulsión |
| CNTNAP2 |
Corpus callosum agenesis-abnormal genitalia syndrome
|
| COA5 |
Corticosterone 18-monooxygenase deficiency
|
| COA8 |
Corticosterone methyloxidase type 2 deficiency
|
| COG1 | Cortisone reductase deficiency |
| COG4 | Costello syndrome |
| COG5 | Cough |
| COG6 | Cowden syndrome |
| COG7 | Cowden syndrome 3 |
| COG8 | Cowden syndrome 6 |
| COL11A1 | Creatine transporter deficiency |
| COL11A2 | Cryptorchidism |
| COL12A1 | Cubitus valgus |
| COL17A1 |
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
|
| COL18A1 | Cushing syndrome |
| COL1A1 | Cutaneous porphyria |
| COL1A2 | Cutis laxa with osteodystrophy |
| COL2A1 | Cutis laxa, autosomal dominant 1 |
| COL3A1 | Cutis laxa, autosómica dominante 3 |
| COL5A1 | Cutis laxa, ligada al cromosoma X |
| COL5A2 | Cystic fibrosis |
| COL6A1 | Cystinuria |
| COL6A2 |
Cytochrome C oxidase-negative muscle fibers
|
| COL6A3 | D-2-hydroxyglutaric aciduria 1 |
| COL7A1 | D-2-hydroxyglutaric aciduria 2 |
| COL9A1 | D-Glyceric aciduria |
| COLQ | Danon disease |
| COQ2 | Deafness dystonia syndrome |
| COQ6 |
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
|
| COQ8A | Death in childhood |
| COQ9 | Death in infancy |
| COX10 |
Decreased circulating antibody concentration
|
| COX14 | Decreased liver function |
| COX15 |
Decreased response to growth hormone stimulation test
|
| COX20 |
Defecto congénito de la absorción de folato
|
| COX4I1 | defecto del campo visual |
| COX4I2 |
Defecto del tabique auriculoventricular y unión auriculoventricular común
|
| COX6B1 | Defecto del tabique ventricular |
| CPLANE1 |
Deficiencia de 3 beta-hidroxiesteroide deshidrogenasa
|
| CPOX |
Deficiencia de 3-hidroxi-3-metilglutaril-CoA sintasa
|
| CPS1 |
deficiencia de 3-hidroxiisobutiril-CoA hidrolasa
|
| CPT1A |
Deficiencia de 3-metilcrotonil-CoA carboxilasa 1
|
| CPT1B |
Deficiencia de 3-metilcrotonil-CoA carboxilasa 2
|
| CPT2 |
Deficiencia de 6-piruvoil-tetrahidrobiopterina sintasa
|
| CRB1 |
Deficiencia de acetil-CoA acetiltransferasa
|
| CREBBP |
Deficiencia de acetil-CoA acetiltransferasa-2
|
| CRELD1 |
Deficiencia de acetil-CoA: carboxilasa
|
| CRHBP |
Deficiencia de acil-CoA deshidrogenasa 9
|
| CRHR1 |
Deficiencia de acil-CoA deshidrogenasa de cadena muy larga
|
| CRPPA | Deficiencia de acil-CoA oxidasa |
| CRTAP |
Deficiencia de acil-coenzima A deshidrogenasa de cadena media
|
| CRX |
Deficiencia de adenilosuccinato liasa
|
| CRYAA | Deficiencia de alfa-manosidasa |
| CRYAB |
Deficiencia de alfa-metilacil-CoA racemasa
|
| CRYBA1 | Deficiencia de aminoacilasa 1 |
| CRYGC | deficiencia de arginasa |
| CRYGD |
Deficiencia de arginina:glicina amidinotransferasa
|
| CSF3R |
Deficiencia de argininosuccinato liasa
|
| CSPP1 | deficiencia de biotinidasa |
| CTC1 |
Deficiencia de coenzima Q10, primaria, 1
|
| CTCF |
Deficiencia de coenzima Q10, primaria, 3
|
| CTDP1 |
Deficiencia de dihidropteridina reductasa
|
| CTLA4 |
Deficiencia de enzima peroxisomal bifuncional
|
| CTNNB1 | Deficiencia de ferroxidasa |
| CTNS | Deficiencia de fosfoserina fosfatasa |
| CTRC |
Deficiencia de glucocorticoides con acalasia
|
| CTSA |
Deficiencia de guanidinoacetato metiltransferasa
|
| CTSD |
Deficiencia de hidroximetilglutaril-CoA liasa
|
| CTSK |
Deficiencia de la descarboxilasa del L-aminoácido aromático
|
| CUBN |
deficiencia de la hormona del crecimiento con baja estatura
|
| CUL4B |
Deficiencia de la proteína activadora de esfingolípidos 1
|
| CUL7 |
Deficiencia de la proteína transportadora de esteroles 2
|
| CXCR4 |
Deficiencia de la quinasa deshidrogenasa de cetoácido de cadena ramificada
|
| CYB5R3 |
Deficiencia de malonil-CoA descarboxilasa
|
| CYC1 |
Deficiencia de succinato-semialdehído deshidrogenasa
|
| CYP11B1 |
Deficiencia de succinil-CoA acetoacetato transferasa
|
| CYP11B2 | deficiencia de sulfito oxidasa |
| CYP17A1 |
Deficiencia de sulfito oxidasa debido a deficiencia del cofactor de molibdeno tipo B
|
| CYP1B1 |
Deficiencia de sulfito oxidasa debido a la deficiencia del cofactor molibdeno tipo A
|
| CYP24A1 |
Deficiencia de sulfito oxidasa debido a la deficiencia del cofactor molibdeno tipo C
|
| CYP26C1 | Deficiencia de transcobalamina II |
| CYP27A1 |
Deficiencia de translocasa de acilcarnitina carnitina
|
| CYP27B1 |
Deficiencia de triosafosfato isomerasa
|
| CYP2R1 |
Deficiencia del transportador de creatina
|
| CYP4F22 |
Deficiencia del transporte cerebral de folato
|
| CYP7B1 |
Deficiency of 2-methylbutyryl-CoA dehydrogenase
|
| D2HGDH |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
|
| DAG1 |
Deficiency of acetyl-CoA acetyltransferase
|
| DARS1 |
Deficiency of aromatic-L-amino-acid decarboxylase
|
| DARS2 |
Deficiency of butyryl-CoA dehydrogenase
|
| DBH |
Deficiency of cytochrome-b5 reductase
|
| DBT |
Deficiency of guanidinoacetate methyltransferase
|
| DCDC2 |
Deficiency of hydroxymethylglutaryl-CoA lyase
|
| DCLRE1C |
Deficiency of isobutyryl-CoA dehydrogenase
|
| DCX |
Deficiency of malonyl-CoA decarboxylase
|
| DDC |
Deficiency of steroid 11-beta-monooxygenase
|
| DDOST |
Degeneración esponjosa del sistema nervioso central
|
| DDR2 |
Degeneración macular relacionada con la edad 8
|
| DDX11 | Delayed gross motor development |
| DECR1 | Delayed myelination |
| DEPDC5 |
Delayed speech and language development
|
| DGAT1 | Dementia |
| DGKE | Dent disease type 1 |
| DGUOK |
Deposición de material osmiófilo granular vascular
|
| DHCR24 | Depressed nasal bridge |
| DHCR7 | Depression |
| DHFR |
Developmental and epileptic encephalopathy, 1
|
| DHODH |
Developmental and epileptic encephalopathy, 11
|
| DHTKD1 |
Developmental and epileptic encephalopathy, 2
|
| DICER1 |
Developmental and epileptic encephalopathy, 36
|
| DIS3L2 |
Developmental and epileptic encephalopathy, 39
|
| DISP1 |
Developmental and epileptic encephalopathy, 4
|
| DKC1 |
Developmental and epileptic encephalopathy, 7
|
| DLAT | Developmental regression |
| DLD | Diabetes mellitus |
| DLG3 | Diabetes mellitus tipo 1 20 |
| DLL3 | Diabetes mellitus tipo 2 |
| DLX3 | Diabetes mellitus type 1 |
| DLX5 |
Diabetes mellitus, transient neonatal, 2
|
| DMD |
Diabetes mellitus, transient neonatal, 3
|
| DNA2 | Diamond-Blackfan anemia |
| DNAAF1 | Diamond-Blackfan anemia 5 |
| DNAAF11 | Diarrhea |
| DNAAF2 | Difficulty walking |
| DNAAF3 |
Dihydropteridine reductase deficiency
|
| DNAAF4 |
Dihydropyrimidine dehydrogenase deficiency
|
| DNAAF5 | Dilated cardiomyopathy 1A |
| DNAH11 | Dilated cardiomyopathy 1C |
| DNAH5 | Dilated cardiomyopathy 1E |
| DNAI1 | Dilated cardiomyopathy 1GG |
| DNAI2 | Dilated cardiomyopathy 1O |
| DNAJC19 |
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
|
| DNAL1 |
Dimethylglycine dehydrogenase deficiency
|
| DNM1 |
Discapacidad específica de aprendizaje
|
| DNM1L |
Discapacidad intelectual sindrómica ligada al cromosoma X tipo Hedera
|
| DNM2 |
Discapacidad intelectual sindrómica ligada al cromosoma X tipo Lubs
|
| DNMT3B | Discapacidad visual |
| DOCK6 |
Discromatosis simétrica de las extremidades
|
| DOCK7 | Disfunción sensorial somática |
| DOCK8 | Displacement of the urethral meatus |
| DOK7 | Displasia acromícrica |
| DOLK | Displasia bumerán |
| DPAGT1 |
Displasia craneometafisaria autosómica recesiva
|
| DPM1 | Displasia de Smith-McCort 1 |
| DPM2 |
Displasia espondiloepifisaria con acortamiento de los metatarsianos
|
| DPM3 |
Displasia espondiloepifisaria congénita
|
| DPP6 | Displasia espondilometafisaria |
| DPYD |
Displasia espondilometafisaria tipo sedaghatiense
|
| DPYS | Displasia espondiloperiférica |
| DRC1 |
Displasia valvular cardíaca ligada al cromosoma X
|
| DSC2 | Distal amyotrophy |
| DSG1 | Distal muscle weakness |
| DSP | Distal myopathy, Tateyama type |
| DST | Distal sensory impairment |
| DSTYK | Distonía 5 |
| DTNA | Distonía 9 |
| DUOX2 |
Distonía autosómica recesiva sensible a DOPA
|
| DUOXA2 |
Distonía sensible a la dopa debido a la deficiencia de sepiapterina reductasa
|
| DYM |
DK1-congenital disorder of glycosylation
|
| DYNC1H1 | Dolichocephaly |
| DYNC2H1 |
Dopa-responsive dystonia due to sepiapterin reductase deficiency
|
| DYRK1A | Downslanted palpebral fissures |
| DYSF |
DPAGT1-congenital disorder of glycosylation
|
| EARS2 |
DPM3-congenital disorder of glycosylation
|
| EBP | Dyggve-Melchior-Clausen syndrome |
| ECEL1 | Dysarthria |
| ECHS1 |
Dyschromatosis universalis hereditaria 3
|
| EDA | Dysgenesis of the cerebellar vermis |
| EDAR | Dyskinesia |
| EDARADD | Dysmetria |
| EDN3 | Dysphagia |
| EDNRB | Dysphonia |
| EEF1A2 | Dyspnea |
| EFEMP2 | Dyssynergia |
| EFHC1 | Dystonia 5 |
| EFTUD2 | Dystonia 9 |
| EGR2 | Dystonic disorder |
| EHHADH |
Early infantile epileptic encephalopathy with suppression bursts
|
| EHMT1 | Early myoclonic encephalopathy |
| EIF2AK3 | Easy fatigability |
| EIF2AK4 | Ectopic kidney |
| EIF2B4 | Eczematoid dermatitis |
| ELAC2 | Electrorretinograma anormal |
| ELANE |
Elevated circulating creatine kinase concentration
|
| ELN |
Elevated circulating hepatic transaminase concentration
|
| ELOVL4 |
Elongated superior cerebellar peduncle
|
| ELP1 |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
|
| EML1 | EMG abnormality |
| EMX2 | Emotional lability |
| ENG | Encefalopatía atípica por glicina |
| ENPP1 | Encefalopatía de Alpers |
| EOGT |
Encefalopatía epiléptica y del desarrollo, 25
|
| EP300 |
Encefalopatía epiléptica y del desarrollo, 39
|
| EPB42 |
Encefalopatía epiléptica y del desarrollo, 50
|
| EPG5 |
Encefalopatía epiléptica y del desarrollo, 8
|
| EPHA2 |
Encefalopatía epiléptica y del desarrollo, 82
|
| EPM2A |
Encefalopatía infantil por deficiencia de tiamina pirofosfoquinasa
|
| EPRS1 |
Encefalopatía por deficiencia de GLUT1
|
| ERBB3 |
Encefalopatía progresiva, de inicio temprano, con edema cerebral y/o leucoencefalopatía, 1
|
| ERCC1 | Encephalocele |
| ERCC2 | Encephalopathy |
| ERCC3 |
Encephalopathy due to GLUT1 deficiency
|
| ERCC4 |
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
|
| ERCC5 |
Encephalopathy, acute, infection-induced, susceptibility to, 4
|
| ERCC6 |
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
|
| ERCC8 | Endometrial carcinoma |
| ERF | enfermedad de Alzheimer |
| ERLIN2 | Enfermedad de Bartter tipo 1 |
| ERMARD | Enfermedad de Bartter tipo 3 |
| ESCO2 | Enfermedad de Bartter tipo 4A |
| ETFA | Enfermedad de Bartter tipo 4B |
| ETFB |
Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X recesiva 5
|
| ETFDH |
Enfermedad de Charcot-Marie-Tooth tipo axonal 2V
|
| ETHE1 |
Enfermedad de Charcot-Marie-Tooth, axonal, tipo 2EE
|
| EVC |
Enfermedad de cuerpos poliglucosánicos del adulto
|
| EVC2 |
Enfermedad de los ganglios basales sensible a la biotina
|
| EXOC4 |
Enfermedad de Parkinson autosómica recesiva 14
|
| EXOSC3 | Enfermedad de Salla |
| EXPH5 | Enfermedad de Sandhoff |
| EYA1 | enfermedad de Tay-Sachs |
| EZH2 | Enfermedad de Wilson |
| F10 |
Enfermedad del músculo ondulante 2
|
| F11 |
Enfermedad del transporte vesicular de dopamina-serotonina en el cerebro
|
| F13A1 |
Enfermedad por almacenamiento de ácido siálico, tipo infantil grave
|
| F13B |
Enfermedad por almacenamiento de colestanol
|
| F2 |
Enfermedad por almacenamiento de triglicéridos con ictiosis
|
| F5 | Enfermedad por cobalamina C |
| F7 | Enlarged fossa interpeduncularis |
| F8 | Epicanthus |
| F9 | Epidermal nevus |
| FADD |
Epidermolysis bullosa simplex 1A, generalized severe
|
| FAH |
Epidermolysis bullosa simplex 1C, localized
|
| FAM20C |
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
|
| FANCA |
Epidermolysis bullosa simplex with migratory circinate erythema
|
| FANCB |
Epidermolysis bullosa simplex with mottled pigmentation
|
| FANCC |
Epidermolysis bullosa simplex, Koebner type
|
| FANCD2 |
Epilepsy, idiopathic generalized, susceptibility to, 11
|
| FANCE |
Epilepsy, idiopathic generalized, susceptibility to, 12
|
| FANCF |
Epilepsy, idiopathic generalized, susceptibility to, 8
|
| FANCG | Epileptic encephalopathy |
| FANCI | Episodic ataxia type 1 |
| FANCL | Episodic ataxia type 2 |
| FAR1 | Episodic ataxia type 6 |
| FARS2 | Episodic tachypnea |
| FAS | Erythroid hypoplasia |
| FASLG |
Erythrokeratodermia variabilis et progressiva 3
|
| FASTKD2 | Escoliosis |
| FAT4 | Espasticidad |
| FBLN1 |
ESPESOR ÍNTIMO MEDIAL DE LA CARÓTIDE 1
|
| FBLN5 | Esplenomegalia |
| FBN1 | Esquizofrenia |
| FBN2 | Esquizofrenia 4 |
| FBP1 | Essential hypertension |
| FBXL4 | Estado epiléptico |
| FBXW4 | Esteatorrea |
| FECH | Estenosis aórtica supravalvular |
| FERMT1 | Estenosis del canal espinal |
| FERMT3 | Estrabismo, susceptibilidad a |
| FGA | Estridor |
| FGB | Ethylmalonic encephalopathy |
| FGD1 | Everted lower lip vermilion |
| FGD4 | Exercise intolerance |
| FGF10 | Exercise-induced hyperinsulinism |
| FGF3 | Exertional dyspnea |
| FGF8 | Exotropia |
| FGFR1 | Fabry disease |
| FGFR2 | Facial palsy |
| FGFR3 | Failure to thrive |
| FGG |
Familial acute necrotizing encephalopathy
|
| FH | Familial adenomatous polyposis 2 |
| FIG4 | Familial aplasia of the vermis |
| FKBP10 | Familial cancer of breast |
| FKBP14 |
Familial hypocalciuric hypercalcemia 1
|
| FKRP |
Familial hypokalemia-hypomagnesemia
|
| FKTN | Familial infantile myasthenia |
| FLG |
Familial isolated deficiency of vitamin E
|
| FLNA |
Familial partial lipodystrophy, Dunnigan type
|
| FLNB | Familial porphyria cutanea tarda |
| FLT4 |
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
|
| FLVCR2 | Fanconi renotubular syndrome 1 |
| FOLR1 | Fanconi-Bickel syndrome |
| FOXC1 | Farber lipogranulomatosis |
| FOXC2 | Fasciculaciones de la lengua |
| FOXE1 |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
|
| FOXE3 | Feeding difficulties |
| FOXF1 | Feeding difficulties in infancy |
| FOXG1 | Female pseudohermaphroditism |
| FOXH1 | Fenilcetonuria |
| FOXI1 |
Fetal akinesia deformation sequence 2
|
| FOXL2 |
Fetal akinesia-cerebral and retinal hemorrhage syndrome
|
| FOXP1 | Fetal growth restriction |
| FOXP2 | FG syndrome 2 |
| FOXP3 | Fibrilación auricular familiar, 9 |
| FOXRED1 |
Fibrilación ventricular paroxística familiar tipo 1
|
| FRAS1 | Fibrochondrogenesis 2 |
| FREM1 |
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
|
| FREM2 |
Fisiología anormal del sistema nervioso autónomo
|
| FRMD7 |
Fisura palpebral inclinada hacia arriba
|
| FTCD | Flexion contracture |
| FTO | Foot dorsiflexor weakness |
| FUCA1 | Foot polydactyly |
| G6PC1 | Forma facial anormal |
| G6PC3 | Friedreich ataxia 1 |
| G6PD | Frontal bossing |
| GAA | Frontometaphyseal dysplasia 1 |
| GABRA1 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
|
| GABRB3 | Fructose-biphosphatase deficiency |
| GABRD | Fucosidosis |
| GABRG2 | Full cheeks |
| GAD1 | Fulminant hepatic failure |
| GALE | Fumarase deficiency |
| GALK1 | Gait ataxia |
| GALT | Gait disturbance |
| GAMT |
Galactosylceramide beta-galactosidase deficiency
|
| GARS1 |
Gamma-aminobutyric acid transaminase deficiency
|
| GATA1 |
Gamma-glutamylcysteine synthetase deficiency
|
| GATA3 | Gastric cancer |
| GATA4 | Gastroesophageal reflux |
| GATA6 | Gastrointestinal stromal tumor |
| GATAD2B |
Gaucher disease due to saposin C deficiency
|
| GATM | Gaucher disease perinatal lethal |
| GBE1 | Gaucher disease type I |
| GCDH | Gaucher disease type II |
| GCH1 | Gaucher disease type III |
| GCK |
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
|
| GCSH | Gaze-evoked nystagmus |
| GDAP1 | Generalized amyotrophy |
| GDF1 |
Generalized epilepsy with febrile seizures plus, type 1
|
| GDF3 |
Generalized epilepsy with febrile seizures plus, type 2
|
| GDF5 | Generalized hyperpigmentation |
| GDF6 | Genitales ambiguos |
| GDNF | Glaucoma |
| GFAP |
Glaucoma, normal tension, susceptibility to
|
| GFER | Glioma susceptibility 1 |
| GFI1 | Gliosis |
| GFM1 | Global developmental delay |
| GFM2 |
Glucocorticoid-remediable aldosteronism
|
| GFPT1 |
Glucose-6-phosphate transport defect
|
| GH1 | Glutaric aciduria, type 1 |
| GJA1 | Glutaryl-CoA oxidase deficiency |
| GJB2 |
Glutathione synthetase deficiency with 5-oxoprolinuria
|
| GJB4 |
Glutathione synthetase deficiency without 5-oxoprolinuria
|
| GJC2 | Gluthathione peroxidase deficiency |
| GLA | Glycine encephalopathy |
| GLB1 |
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
|
| GLDC |
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
|
| GLE1 |
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
|
| GLI2 |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
|
| GLI3 |
Glycogen storage disease due to muscle beta-enolase deficiency
|
| GLIS3 |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
|
| GLRA1 | Glycogen storage disease IXa1 |
| GLRB | Glycogen storage disease IXb |
| GLUD1 | Glycogen storage disease IXc |
| GLUL | Glycogen storage disease IXd |
| GLYCTK | Glycogen storage disease type III |
| GM2A | Glycogen storage disease type X |
| GMPPA | Glycogen storage disease XV |
| GMPPB | Glycogen storage disease, type II |
| GNA11 | Glycogen storage disease, type IV |
| GNAI3 | Glycogen storage disease, type V |
| GNAO1 | Glycogen storage disease, type VI |
| GNAS | Glycogen storage disease, type VII |
| GNE |
Glycogen storage disorder due to hepatic glycogen synthase deficiency
|
| GNMT | Glycosuria |
| GNPAT | GM1 gangliosidosis type 2 |
| GNPTAB | GM1 gangliosidosis type 3 |
| GNPTG | GNE myopathy |
| GNS | GNPTG-mucolipidosis |
| GORAB | Gonadal dysgenesis |
| GP1BA | Gowers sign |
| GP1BB | GRACILE syndrome |
| GP6 |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
|
| GP9 |
Granulomatous disease, chronic, X-linked
|
| GPC3 | Growth delay |
| GPC6 | GTP cyclohydrolase I deficiency |
| GPD1 | Haim-Munk syndrome |
| GPHN | Hand polydactyly |
| GPR179 | Harderoporphyria |
| GPSM2 | Hawkinsinuria |
| GRHPR | Hearing impairment |
| GRIN1 | Hearing loss, autosomal recessive |
| GRIN2A | Hearing loss, X-linked 1 |
| GRIN2B | Heart septal defect |
| GRIP1 |
Heart-hand syndrome, Slovenian type
|
| GRM1 | Heimler syndrome 1 |
| GRM6 | Heimler syndrome 2 |
| GRN | Hemifacial spasm |
| GSS | Hemochromatosis type 1 |
| GTF2H5 | Hemochromatosis type 2B |
| GTPBP3 | Hemochromatosis type 3 |
| GUCY2C | Hemochromatosis type 4 |
| GUCY2D | Hemochromatosis type 5 |
| GUSB | hemocromatosis hereditaria |
| GYG1 |
Hemolytic anemia due to glucophosphate isomerase deficiency
|
| GYS1 |
Hemolytic anemia due to hexokinase deficiency
|
| GYS2 |
Hemolytic anemia due to pyrimidine 5′ nucleotidase deficiency
|
| HACD1 | Heparan sulfate excretion in urine |
| HADH | Hepatic adenomas, familial |
| HADHA |
Hepatic methionine adenosyltransferase deficiency
|
| HADHB | Hepatic steatosis |
| HAL | Hepatocellular carcinoma |
| HAND2 | Hepatocellular necrosis |
| HARS2 |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
|
| HAX1 | Hepatomegaly |
| HBB | Hepatosplenomegaly |
| HCCS |
Hereditary acrodermatitis enteropathica
|
| HCFC1 |
Hereditary cancer-predisposing syndrome
|
| HCN1 | Hereditary coproporphyria |
| HCN4 |
Hereditary cryohydrocytosis with reduced stomatin
|
| HDAC4 | Hereditary disease |
| HDAC8 | Hereditary fructosuria |
| HEPACAM |
Hereditary hyperferritinemia with congenital cataracts
|
| HES7 | Hereditary intrinsic factor deficiency |
| HESX1 |
Hereditary leiomyomatosis and renal cell cancer
|
| HEXA |
Hereditary motor and sensory neuropathy with optic atrophy
|
| HEXB |
Hereditary myopathy with lactic acidosis due to ISCU deficiency
|
| HGSNAT |
Hereditary nonpolyposis colorectal carcinoma
|
| HIBCH | Hereditary pancreatitis |
| HLCS |
Hereditary sensory and autonomic neuropathy type 1
|
| HMBS | Hereditary spastic paraplegia |
| HMGCL | Hereditary spastic paraplegia 13 |
| HMGCS2 | Hereditary spastic paraplegia 17 |
| HNF1A | Hereditary spastic paraplegia 30 |
| HNF1B | Hereditary spastic paraplegia 31 |
| HNF4A | Hereditary spastic paraplegia 35 |
| HOXC13 | Hereditary spastic paraplegia 4 |
| HOXD13 | Hereditary spastic paraplegia 42 |
| HPD | Hereditary spastic paraplegia 43 |
| HPGD | Hereditary spastic paraplegia 50 |
| HPRT1 | Hereditary spastic paraplegia 7 |
| HPSE2 | Hereditary spastic paraplegia 9A |
| HRAS | Hereditary xanthinuria type 1 |
| HSD17B10 | Hermansky-Pudlak syndrome 7 |
| HSD17B4 |
Heterotopia, periventricular, X-linked dominant
|
| HSD3B2 | High CSF lactic acid |
| HSD3B7 | High forehead |
| HSPD1 | High palate |
| HSPG2 | Highly arched eyebrow |
| HUWE1 | Hip dislocation |
| HYDIN | Hiperamonemia congénita, tipo I |
| HYLS1 | Hiperfenilalaninemia transitoria |
| IBA57 |
Hipertrigliceridemia infantil transitoria y hepatoesteatosis
|
| ICOS | Hipertrofia ventricular |
| IDS |
Hipocalcemia autosómica dominante 1
|
| IDUA | Hipopituitarismo anterior |
| IER3IP1 | HNSHA due to aldolase A deficiency |
| IFIH1 |
Holocarboxylase synthetase deficiency
|
| IFITM5 | homocistinuria clásica |
| IFT122 | Homocystinuria |
| IFT140 |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
|
| IFT172 | HSD10 mitochondrial disease |
| IFT27 | Huppke-Brendel syndrome |
| IFT43 | Hurler syndrome |
| IFT80 | Hurthle cell carcinoma of thyroid |
| IGF1 | Hutchinson-Gilford syndrome |
| IGF1R | Hyaline fibromatosis syndrome |
| IGFBP7 | Hydrocephalus |
| IGHM | Hydroxykynureninuria |
| IGHMBP2 | Hyper-beta-alaninemia |
| IGLL1 | Hyper-IgM syndrome type 5 |
| IGSF1 | Hyperactivity |
| IHH | Hyperammonemia |
| IKBKB | Hyperammonemia, type III |
| IKBKG |
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
|
| IL20RA | Hypercalcemia, infantile, 1 |
| IL21 | Hyperekplexia 1 |
| IL21R | Hyperekplexia 2 |
| IL2RA | Hyperekplexia 3 |
| IL2RG | Hyperekplexia 4 |
| IL7R | Hyperglycinuria |
| IMPDH1 |
Hyperinsulinemic hypoglycemia, familial, 1
|
| INPP5E |
Hyperinsulinemic hypoglycemia, familial, 2
|
| INPPL1 |
Hyperinsulinemic hypoglycemia, familial, 4
|
| INS |
Hyperinsulinism due to glucokinase deficiency
|
| INSR |
Hyperinsulinism due to INSR deficiency
|
| INVS |
Hyperinsulinism-hyperammonemia syndrome
|
| IQCB1 | Hyperkalemic periodic paralysis |
| IRAK4 | Hyperkeratosis |
| IRF6 | Hyperlysinemia |
| IRF8 |
Hypermanganesemia with dystonia 2
|
| IRX4 |
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
|
| ISCU | Hypernasal speech |
| ITGA2B |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
| ITGA3 | Hyperostosis cranialis interna |
| ITGA6 | Hyperphenylalaninemia |
| ITGA7 |
Hyperphenylalaninemia due to DNAJC12 deficiency
|
| ITGB3 | Hyperphosphaturia |
| ITGB4 | Hyperprolinemia type 2 |
| ITPR1 | Hypertelorism |
| IVD | Hypertonia |
| IYD | Hypertrichosis |
| JAG1 |
Hypertrichotic osteochondrodysplasia Cantu type
|
| JAGN1 | Hypertrophic cardiomyopathy |
| JAK3 | Hypertrophic cardiomyopathy 1 |
| JUP | Hypertrophic cardiomyopathy 6 |
| KANK1 |
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
|
| KANSL1 | Hypochromic microcytic anemia |
| KAT6B | Hypoglycemia |
| KCNA2 | Hypohidrosis |
| KCNB1 |
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
|
| KCND2 |
Hypoinsulinemic hypoglycemia and body hemihypertrophy
|
| KCNE1 |
Hypokalemic periodic paralysis, type 1
|
| KCNE2 |
Hypokalemic periodic paralysis, type 2
|
| KCNH2 | Hypokinesia |
| KCNH5 |
Hypomagnesemia, seizures, and intellectual disability 1
|
| KCNJ10 | Hypomyelinating leukodystrophy 4 |
| KCNJ11 |
Hypophosphatemic rickets, X-linked recessive
|
| KCNJ13 | Hypopigmented skin patches |
| KCNJ2 | Hypoplasia of penis |
| KCNJ5 | Hypoplasia of the brainstem |
| KCNJ8 | Hypoplasia of the corpus callosum |
| KCNK3 | Hypoplasia of the thymus |
| KCNMA1 | Hypoplastic left heart syndrome 1 |
| KCNQ1 |
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
|
| KCNQ2 | Hyporeflexia |
| KCNQ3 | Hypospadias |
| KCNT1 | Hypotelorism |
| KCTD1 | Hypotension |
| KCTD7 | Hypothyroidism |
| KDM5C | Hypotonia |
| KDM6A |
Hypotonia with lactic acidemia and hyperammonemia
|
| KIF11 | Hypsarrhythmia |
| KIF1A | Ichthyosis prematurity syndrome |
| KIF21A |
Imerslund-Grasbeck syndrome type 1
|
| KIF22 |
Imerslund-Grasbeck syndrome type 2
|
| KIF2A | Iminoglycinuria |
| KIF5A | Immunodeficiency |
| KIF5C | Immunodeficiency 23 |
| KIF7 | Immunodeficiency 47 |
| KIFBP | Impaired smooth pursuit |
| KISS1 | Inborn glycerol kinase deficiency |
| KISS1R | Inborn organic aciduria |
| KLF1 | Incontinencia urinaria |
| KLF11 | Incoordination |
| KLHL40 |
Increased circulating lactate concentration
|
| KLHL41 |
Increased circulating pyruvate concentration
|
| KMT2A | Increased CSF lactate |
| KMT2D |
Increased hepatocellular lipid droplets
|
| KNL1 |
Increased intramyocellular lipid droplets
|
| KPTN | Increased muscle glycogen content |
| KRAS |
Increased neuronal autofluorescent lipopigment
|
| KRT1 |
ÍNDICE DE MASA CORPORAL RASGO CUANTITATIVO LOCUS 4
|
| KRT10 |
Infantile cerebellar-retinal degeneration
|
| KRT14 | Infantile GM1 gangliosidosis |
| KRT16 | Infantile liver failure |
| KRT2 | Infantile neuroaxonal dystrophy |
| KRT5 | Infantile onset spinocerebellar ataxia |
| KRT81 |
Inherited glutathione synthetase deficiency
|
| KRT83 | Inherited orthostatic hypotension |
| KRT86 |
Inmunodeficiencia ligada al cromosoma X con defecto de magnesio, infección por el virus de Epstein-Barr y neoplasia
|
| KRT9 |
Insuficiencia hepática infantil aguda debido a un defecto de síntesis de proteínas codificadas por ADNmt
|
| L1CAM |
Insulin-resistant diabetes mellitus AND acanthosis nigricans
|
| L2HGDH | Intellectual disability |
| LAMA2 |
Intellectual disability, autosomal dominant 9
|
| LAMA3 |
Intellectual disability, autosomal recessive 18
|
| LAMB1 |
Intellectual disability, autosomal recessive 7
|
| LAMB2 | Intellectual disability, mild |
| LAMB3 | Intellectual disability, moderate |
| LAMC2 | Intellectual disability, X-linked 63 |
| LAMTOR2 |
Intellectual disability, X-linked, with or without seizures, arx-related
|
| LARGE1 | Intention tremor |
| LARS1 | Intestinal hypomagnesemia 1 |
| LARS2 |
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
|
| LBR | Intrahepatic biliary dysgenesis |
| LCA5 | Iris coloboma |
| LCK | Iron deficiency anemia |
| LDHA | Irregular hyperpigmentation |
| LEFTY2 | Ischemic stroke |
| LEMD3 | Isolated microcephaly |
| LGI1 |
Isovaleryl-CoA dehydrogenase deficiency
|
| LHCGR | Jaberi-Elahi syndrome |
| LHX1 | Jalili syndrome |
| LHX3 | Jaundice |
| LHX4 | Jervell and Lange-Nielsen syndrome |
| LIAS |
Jervell and Lange-Nielsen syndrome 2
|
| LIFR | Joint contracture of the hand |
| LIG4 | Juvenile nephropathic cystinosis |
| LIPA | Juvenile onset |
| LIPN | Kahrizi syndrome |
| LIPT1 | Keratan sulfate excretion in urine |
| LMAN1 | Kniest dysplasia |
| LMBR1 |
Krabbe disease due to saposin A deficiency
|
| LMBRD1 | Kufor-Rakeb syndrome |
| LMNA | Kyphoscoliosis |
| LMOD3 | Kyphosis |
| LMX1B | L-2-hydroxyglutaric aciduria |
| LPIN1 | L-ferritin deficiency |
| LPIN2 | Labio superior fino bermellón |
| LPL | Lactic acidosis |
| LRAT | Lafora disease |
| LRBA | Large fontanelles |
| LRIT3 | Larsen syndrome |
| LRP2 | Legg-Calve-Perthes disease |
| LRP4 | Leigh syndrome |
| LRP5 | Leiomiosarcoma uterino |
| LRPPRC | Leprechaunism syndrome |
| LRRC8A | Lesch-Nyhan syndrome |
| LTBP4 |
Lethal congenital glycogen storage disease of heart
|
| LYRM4 |
Lethal tight skin contracture syndrome
|
| LYST | Lethargy |
| LZTFL1 |
leucemia linfoblástica aguda de células T
|
| LZTR1 | leucemia linfoide aguda |
| MAF | Leucine-induced hypoglycemia |
| MAFB |
Leukocyte adhesion deficiency type II
|
| MAGEL2 | Leukodystrophy |
| MAN1B1 |
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
|
| MAN2B1 |
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
|
| MANBA |
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
|
| MAP2K1 |
Leukoencephalopathy, progressive, with ovarian failure
|
| MAP2K2 | Lewy body dementia |
| MARS2 | Li-Fraumeni syndrome 1 |
| MASP1 | Limb ataxia |
| MASTL | Limb hypertonia |
| MAT1A | Limb-girdle muscle weakness |
| MBD5 | Linear nevus sebaceous syndrome |
| MC2R |
Linear skin defects with multiple congenital anomalies 1
|
| MC4R |
Lipidosis de esfingomielina/colesterol
|
| MCCC1 | Lipoatrophy |
| MCCC2 | Lipodistrofia generalizada congénita |
| MCEE |
Lipodistrofia generalizada congénita tipo 2
|
| MCFD2 | Lipodistrofia parcial familiar |
| MCM4 | Lipofuscinosis ceroide neuronal, 6A |
| MCOLN1 |
Lipofuscinosis ceroide neuronal, 6B (tipo Kufs)
|
| MCPH1 |
Lipofuscinosis ceroidea neuronal adulta
|
| MCTP2 | Lipoic acid synthetase deficiency |
| MECP2 |
Lisencefalia ligada al cromosoma X con genitales anormales
|
| MED12 | Liver failure |
| MED13L |
LOCUS DE RASGO CUANTITATIVO DE NIVEL SÉRICO DE TRANSFERRINA 2
|
| MED17 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
| MEF2A | Long face |
| MEF2C | Long fingers |
| MEFV | Long philtrum |
| MEGF10 | Long QT syndrome |
| MEGF8 | Long QT syndrome 1 |
| MEIS2 | Long QT syndrome 2 |
| MEOX1 | Long QT syndrome 3 |
| MESP2 | Long QT syndrome 5 |
| MFF | Long QT syndrome 6 |
| MFSD8 | Long QT syndrome 9 |
| MGAT1 | Long toe |
| MGAT2 |
Low phospholipid associated cholelithiasis
|
| MGME1 | Low-set ears |
| MGP | Low-set, posteriorly rotated ears |
| MIB1 | Lower limb muscle weakness |
| MID1 | Lower limb spasticity |
| MITF | Lung carcinoma |
| MKKS | Lupus eritematoso sistémico |
| MKS1 | Lymphadenopathy |
| MLC1 | Lysinuric protein intolerance |
| MLYCD | Lysosomal acid lipase deficiency |
| MMAA | Macrocephaly |
| MMAB | Macrocytic anemia |
| MMACHC | Macroglossia |
| MMADHC | Macrogyria |
| MMP13 |
Macular dystrophy with central cone involvement
|
| MMP14 | Major depressive disorder |
| MMP2 | Malar flattening |
| MMP9 | Malaria, susceptibility to |
| MMUT | Male pseudohermaphroditism |
| MOCS1 |
Malformation of the heart and great vessels
|
| MOCS2 |
Malignant hyperthermia, susceptibility to, 5
|
| MOGS | Malignant tumor of urinary bladder |
| MPC1 |
Mandibuloacral dysplasia with type A lipodystrophy
|
| MPDU1 |
Mandibuloacral dysplasia with type B lipodystrophy
|
| MPDZ | Maple syrup urine disease |
| MPI |
Maple syrup urine disease, mild variant
|
| MPL | Marcha de puntillas |
| MPV17 | Marcha en estepa |
| MPZ |
Maturity-onset diabetes of the young type 1
|
| MRAP |
Maturity-onset diabetes of the young type 2
|
| MRE11 |
Maturity-onset diabetes of the young type 3
|
| MRPL3 |
Maturity-onset diabetes of the young type 4
|
| MRPL44 | McCune-Albright syndrome |
| MRPS16 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
| MRPS22 | MEDNIK syndrome |
| MS4A1 | Megacolon |
| MSMO1 |
Megaconial type congenital muscular dystrophy
|
| MTFMT |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
|
| MTHFR | Melnick-Needles syndrome |
| MTM1 | Menkes kinky-hair syndrome |
| MTO1 | Mental deterioration |
| MTOR |
Merosin deficient congenital muscular dystrophy
|
| MTPAP | Metabolic acidosis |
| MTR |
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
|
| MTRFR |
Metabolic myopathy due to lactate transporter defect
|
| MTRR |
Metabolismo de la hormona tiroidea, anormal 1
|
| MUSK | Metachromatic leukodystrophy |
| MVK |
Metaphyseal chondrodysplasia, McKusick type
|
| MYBPC1 |
Metaphyseal dysplasia without hypotrichosis
|
| MYCN | Metatarsus adductus |
| MYH11 | Methemoglobinemia type 4 |
| MYH2 |
Methylcobalamin deficiency type cblE
|
| MYH3 |
Methylcobalamin deficiency type cblG
|
| MYH6 |
Methylmalonate semialdehyde dehydrogenase deficiency
|
| MYH7 | Methylmalonic acidemia |
| MYH7B |
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
|
| MYH8 |
Methylmalonic acidemia due to transcobalamin receptor defect
|
| MYH9 |
Methylmalonic acidemia with homocystinuria, type cblJ
|
| MYO18B |
Methylmalonic acidemia with homocystinuria, type cblX
|
| MYO5A | Methylmalonic aciduria |
| NAA10 |
Methylmalonic aciduria and homocystinuria type cblD
|
| NADK2 |
Methylmalonic aciduria and homocystinuria type cblF
|
| NAGA |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
|
| NAGLU | Methylmalonic aciduria, cblA type |
| NAGS | Methylmalonic aciduria, cblB type |
| NALCN |
MGAT2-congenital disorder of glycosylation
|
| NARS2 | MHC class I deficiency |
| NBEAL2 |
Microcefalia congénita – encefalopatía grave – síndrome de atrofia cerebral progresiva
|
| NBN | Microcefalia letal Amish |
| NDE1 |
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
|
| NDP | Micrognathia |
| NDUFA1 | Micropenis |
| NDUFA10 |
Microphthalmia, isolated, with coloboma 7
|
| NDUFA11 |
Microvascular complications of diabetes, susceptibility to, 6
|
| NDUFA12 |
Microvascular complications of diabetes, susceptibility to, 7
|
| NDUFA13 | Microvesicular hepatic steatosis |
| NDUFA2 | Midface retrusion |
| NDUFA4 | Migraine, familial hemiplegic, 1 |
| NDUFA9 | Migraine, familial hemiplegic, 3 |
| NDUFAF1 | Miller syndrome |
| NDUFAF2 | Mitochondrial complex I deficiency |
| NDUFAF3 |
Mitochondrial complex II deficiency, nuclear type 1
|
| NDUFAF4 |
Mitochondrial complex III deficiency nuclear type 1
|
| NDUFAF5 |
Mitochondrial complex III deficiency nuclear type 2
|
| NDUFAF6 |
Mitochondrial complex III deficiency nuclear type 3
|
| NDUFAF7 |
Mitochondrial complex III deficiency nuclear type 4
|
| NDUFB3 |
Mitochondrial complex IV deficiency, nuclear type 1
|
| NDUFB9 |
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
|
| NDUFS1 |
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
|
| NDUFS2 |
Mitochondrial DNA depletion syndrome 1
|
| NDUFS3 |
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
|
| NDUFS4 |
Mitochondrial DNA depletion syndrome 13
|
| NDUFS6 |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
|
| NDUFS7 |
Mitochondrial DNA depletion syndrome 4b
|
| NDUFS8 |
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
|
| NDUFV1 |
Mitochondrial DNA depletion syndrome 8a
|
| NDUFV2 |
Mitochondrial DNA depletion syndrome 9
|
| NEB |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
|
| NECAP1 |
Mitochondrial DNA depletion syndrome, myopathic form
|
| NEK1 | Mitochondrial encephalomyopathy |
| NEU1 |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
|
| NEUROD1 |
Mitochondrial pyruvate carrier deficiency
|
| NEUROG3 |
Mitochondrial respiratory chain defects
|
| NEXMIF |
Mitochondrial trifunctional protein deficiency
|
| NF1 |
MOGS-congenital disorder of glycosylation
|
| NFIX | Molar tooth sign on MRI |
| NFKB1 | Morfología anormal de la hélice |
| NFKBIA |
Morfología anormal de la sustancia blanca periventricular
|
| NFU1 |
Morfología anormal de la válvula mitral
|
| NGF |
Morfología anormal de la válvula tricúspide
|
| NGLY1 | Morfología anormal de las uñas |
| NHEJ1 |
Morfología anormal de los genitales internos femeninos
|
| NHLRC1 |
Morfología anormal de los megacariocitos
|
| NHS | Morfología anormal del acetábulo |
| NID1 |
Morfología anormal del esmalte dental
|
| NIN | Morfología anormal del humor vítreo |
| NIPAL4 | Morfología anormal del pie |
| NIPBL | Morfología coriorretiniana anormal |
| NKX2-1 |
Morfología intersticial pulmonar anormal
|
| NKX2-2 | Morfología testicular anormal |
| NKX2-5 | MORM syndrome |
| NKX2-6 | Motor axonal neuropathy |
| NKX3-2 | Motor delay |
| NLRP3 | Movement disorder |
| NME8 |
Movimientos oculares sacádicos anormales
|
| NMNAT1 |
MPDU1-congenital disorder of glycosylation
|
| NNT |
MPI-congenital disorder of glycosylation
|
| NODAL | Mucolipidosis type II |
| NOG | Mucolipidosis type IV |
| NOS3 | Mucopolysaccharidosis |
| NOTCH1 | Mucopolysaccharidosis type 6 |
| NOTCH2 | Mucopolysaccharidosis type 7 |
| NPC1 | Mucopolysaccharidosis, MPS-I-H/S |
| NPC2 | Mucopolysaccharidosis, MPS-I-S |
| NPHP1 | Mucopolysaccharidosis, MPS-II |
| NPHP3 | Mucopolysaccharidosis, MPS-III-A |
| NPHP4 | Mucopolysaccharidosis, MPS-III-B |
| NPHS1 | Mucopolysaccharidosis, MPS-III-C |
| NPR2 | Mucopolysaccharidosis, MPS-III-D |
| NR0B1 | Mucopolysaccharidosis, MPS-IV-A |
| NR1H4 | Mucopolysaccharidosis, MPS-IV-B |
| NR2F1 |
Multiple acyl-CoA dehydrogenase deficiency
|
| NR2F2 | Multiple congenital anomalies |
| NR3C1 | Multiple endocrine neoplasia, type 1 |
| NR3C2 |
Multiple epiphyseal dysplasia, Beighton type
|
| NR5A1 |
Multiple mitochondrial dysfunctions syndrome 1
|
| NRAS |
Multiple mitochondrial dysfunctions syndrome 2
|
| NRXN1 | Multiple sulfatase deficiency |
| NSD1 | Multiple system atrophy |
| NSDHL | Muscle spasm |
| NSMF | Muscular atrophy |
| NSUN2 | Myalgia |
| NTRK1 |
Myasthenic syndrome, congenital, 23, presynaptic
|
| NUBPL | Myelodysplasia |
| NUP62 | Myocardial infarction |
| NYX |
Myocardial infarction, susceptibility to, 1
|
| OAT | Myoclonus |
| OBSL1 | Myofibrillar myopathy 3 |
| OCLN | Myofibrillar myopathy 4 |
| OCRL |
Myoglobinuria, acute recurrent, autosomal recessive
|
| ODAD1 | Myopathy |
| ODAD2 |
Myopathy, distal, with rimmed vacuoles
|
| ODAD3 |
Myopathy, lactic acidosis, and sideroblastic anemia 1
|
| OGDH |
Myopathy, lactic acidosis, and sideroblastic anemia 2
|
| OPA1 | Myopia |
| OPA3 | Myopia 6 |
| OPHN1 | Namaqualand hip dysplasia |
| OPLAH | Narrow face |
| ORC1 | Narrow forehead |
| ORC4 | Nausea |
| ORC6 | Nausea and vomiting |
| OSTM1 |
Necrosis avascular de la cabeza femoral, primaria, 1
|
| OTC |
Nefrolitiasis recesiva ligada al cromosoma X con insuficiencia renal
|
| OXCT1 | Neonatal breathing dysregulation |
| P3H1 |
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
|
| PACS1 | Neonatal hypotonia |
| PAFAH1B1 |
Neonatal intrahepatic cholestasis due to citrin deficiency
|
| PAH | Neonatal sepsis |
| PANK2 |
Neonatal severe primary hyperparathyroidism
|
| PAX2 | Neoplasia testicular |
| PAX3 | Neoplasm of esophagus |
| PAX6 | Neoplasm of stomach |
| PAX8 | Nephroblastoma |
| PBX1 | Nephrocalcinosis |
| PC |
Nephronophthisis-like nephropathy 1
|
| PCBD1 | Nephropathic cystinosis |
| PCCA | Nephrotic syndrome, type 9 |
| PCCB | Neu-Laxova syndrome 1 |
| PCDH19 | Neu-Laxova syndrome 2 |
| PCK1 | Neural tube defects, folate-sensitive |
| PCK2 | Neuroblastoma |
| PCNT | Neurodegeneration |
| PDE4D |
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
|
| PDE5A |
Neurodegeneration with brain iron accumulation 2B
|
| PDE6D |
Neurodegeneration with brain iron accumulation 4
|
| PDGFRA |
Neurodegeneration with brain iron accumulation 5
|
| PDGFRB |
Neurodegeneration with brain iron accumulation 6
|
| PDHA1 |
Neurodegeneration with brain iron accumulation 7
|
| PDHB |
Neurodegeneration with brain iron accumulation 8
|
| PDHX | Neurodegeration |
| PDP1 |
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
|
| PDSS1 | Neuroferritinopathy |
| PDSS2 |
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
|
| PDX1 | Neuronal ceroid lipofuscinosis |
| PEPD | Neuronal ceroid lipofuscinosis 1 |
| PET100 | Neuronal ceroid lipofuscinosis 10 |
| PEX1 | Neuronal ceroid lipofuscinosis 2 |
| PEX10 | Neuronal ceroid lipofuscinosis 3 |
| PEX11B | Neuronal ceroid lipofuscinosis 5 |
| PEX12 | Neuronal ceroid lipofuscinosis 7 |
| PEX13 | Neuronal ceroid lipofuscinosis 8 |
| PEX14 |
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
|
| PEX16 |
Neuronopathy, distal hereditary motor, type 5A
|
| PEX19 |
Neuronopathy, distal hereditary motor, type 5B
|
| PEX2 | Neuropathic spinal arthropathy |
| PEX26 |
Neuropathy, hereditary sensory and autonomic, type 1C
|
| PEX3 |
Neuropathy, hereditary sensory and autonomic, type 2A
|
| PEX5 |
Neuropathy, hereditary sensory, type 2C
|
| PEX6 |
Neuropatía atáxica sensorial, disartria y oftalmoparesia
|
| PEX7 |
Neutral 1 amino acid transport defect
|
| PFKM | Neutropenia |
| PGAP3 | Niemann-Pick disease, type A |
| PGK1 | Niemann-Pick disease, type B |
| PGM1 | Niemann-Pick disease, type C1 |
| PGM3 | Niemann-Pick disease, type C2 |
| PHEX | Nonpapillary renal cell carcinoma |
| PHF6 | Nonprogressive encephalopathy |
| PHF8 | Nystagmus |
| PHGDH | Obesidad troncal |
| PHKA2 | Obesity |
| PHKB | Obstructive sleep apnea syndrome |
| PHKG2 | Occipital myelomeningocele |
| PHOX2B | Ocular cystinosis |
| PHYH | Oculodentodigital dysplasia |
| PIEZO1 |
Oculodentodigital dysplasia, autosomal recessive
|
| PIEZO2 | Oculomotor apraxia |
| PIGA | Onion bulb formation |
| PIGL | Opacification of the corneal stroma |
| PIGM | Open mouth |
| PIGN | Ophthalmoparesis |
| PIGO | Ophthalmoplegia |
| PIGQ | Optic atrophy |
| PIGT | Optic atrophy 3 |
| PIGV | Optic atrophy 9 |
| PIK3CA |
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
|
| PIK3CD |
Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive
|
| PIK3R1 | Optic disc pallor |
| PIK3R2 | Optic nerve dysplasia |
| PIP5K1C | Optic nerve hypoplasia |
| PITX1 |
Ornithine aminotransferase deficiency
|
| PITX2 |
Ornithine carbamoyltransferase deficiency
|
| PKD2 | Orofacial cleft |
| PKHD1 | Orofacial dyskinesia |
| PKLR | Oromandibular dystonia |
| PKP1 | Orthostatic hypotension 1 |
| PKP2 | Osteocraniostenosis |
| PLA2G6 | Osteopenia |
| PLCB1 | Oto-palato-digital syndrome, type I |
| PLCB4 | Oto-palato-digital syndrome, type II |
| PLCG2 |
Otospondylomegaepiphyseal dysplasia, autosomal dominant
|
| PLEC |
Otospondylomegaepiphyseal dysplasia, autosomal recessive
|
| PLG | Ovarian neoplasm |
| PLOD1 | Paget disease of bone 3 |
| PLOD2 | Paladar duro hendido submucoso |
| PLOD3 | Palmoplantar keratoderma |
| PLP1 | Palpebral edema |
| PMM2 | Pancreatic agenesis 1 |
| PMP22 | Pancreatic fibrosis |
| PNKD |
Pancreatic insufficiency-anemia-hyperostosis syndrome
|
| PNKP | Panic disorder 1 |
| PNLIP | Papillary renal cell carcinoma type 1 |
| PNP | Papillon-Lefèvre syndrome |
| PNPLA1 | Paragangliomas 1 |
| PNPLA8 | Paragangliomas 2 |
| PNPO | Paragangliomas 3 |
| PNPT1 | Paragangliomas 4 |
| POC1A | Paragangliomas 5 |
| POLG |
Parálisis periódica tirotóxica, susceptibilidad a, 1
|
| POLG2 |
Paramyotonia congenita of Von Eulenburg
|
| POLR1C |
Paraplejía espástica autosómica recesiva tipo 78
|
| POLR1D |
Paraplejía espástica compleja autosómica recesiva tipo 9B
|
| POLR3A | Parkinson disease |
| POLR3B |
Parkinson disease 13, autosomal dominant, susceptibility to
|
| POMC |
Paroxysmal nonkinesigenic dyskinesia
|
| POMGNT1 |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
|
| POMGNT2 |
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
|
| POMK | Partington syndrome |
| POMP | Patrón anormal de respiración |
| POMT1 | Patrón de habla anormal |
| POMT2 | Patrón de Wolff-Parkinson-White |
| POP1 | PDA1 |
| POR | Pendred syndrome |
| PORCN | Pequeño para la edad gestacional |
| POU1F1 |
Pérdida auditiva autosómica dominante no sindrómica 13
|
| PPIB |
Pérdida auditiva autosómica dominante no sindrómica 6
|
| PPT1 |
Pérdida auditiva autosómica recesiva no sindrómica 4
|
| PQBP1 |
Pérdida auditiva autosómica recesiva no sindrómica 53
|
| PREPL | Pérdida de peso |
| PRF1 |
Perfil de isoformas de transferrina tipo I
|
| PRICKLE1 | Periodontitis, aggressive 1 |
| PRKAG2 | Peripheral axonal neuropathy |
| PRKAR1A | Peripheral neuropathy |
| PRKCD |
Permanent neonatal diabetes mellitus
|
| PROC |
Peroxisome biogenesis disorder 10A (Zellweger)
|
| PRODH |
Peroxisome biogenesis disorder 10B
|
| PROKR2 |
Peroxisome biogenesis disorder 11A (Zellweger)
|
| PROP1 | Peroxisome biogenesis disorder 11B |
| PROS1 |
Peroxisome biogenesis disorder 12A (Zellweger)
|
| PRPS1 |
Peroxisome biogenesis disorder 13A (Zellweger)
|
| PRRT2 |
Peroxisome biogenesis disorder 14B
|
| PRSS56 |
Peroxisome biogenesis disorder 1A (Zellweger)
|
| PRX | Peroxisome biogenesis disorder 1B |
| PSAP |
Peroxisome biogenesis disorder 2A (Zellweger)
|
| PSAT1 | Peroxisome biogenesis disorder 2B |
| PSPH |
Peroxisome biogenesis disorder 3A (Zellweger)
|
| PSTPIP1 |
Peroxisome biogenesis disorder 4A (Zellweger)
|
| PTCH1 | Peroxisome biogenesis disorder 4B |
| PTCH2 |
Peroxisome biogenesis disorder 5A (Zellweger)
|
| PTDSS1 | Peroxisome biogenesis disorder 5B |
| PTEN |
Peroxisome biogenesis disorder 6A (Zellweger)
|
| PTF1A | Peroxisome biogenesis disorder 6B |
| PTH1R |
Peroxisome biogenesis disorder 7A (Zellweger)
|
| PTHLH | Peroxisome biogenesis disorder 7B |
| PTPN11 |
Peroxisome biogenesis disorder 8A (Zellweger)
|
| PTPRC | Peroxisome biogenesis disorder 8B |
| PTS | Peroxisome biogenesis disorder 9B |
| PURA |
Peroxisome biogenesis disorder type 3B
|
| PUS1 | Perrault syndrome |
| PYCR1 | Perrault syndrome 2 |
| PYCR2 | Perrault syndrome 4 |
| PYGL | Perrault syndrome 5 |
| PYGM | Pes cavus |
| QARS1 | Peters plus syndrome |
| QDPR |
PGM1-congenital disorder of glycosylation
|
| RAB18 | Phenylketonuria |
| RAB23 | Pheochromocytoma |
| RAB27A | PHGDH deficiency |
| RAB33B | Phosphate transport defect |
| RAB3GAP1 |
Phosphoenolpyruvate carboxykinase deficiency, cytosolic
|
| RAB3GAP2 |
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
|
| RAC2 |
Phosphoribosylpyrophosphate synthetase superactivity
|
| RAD51 | Phytanic acid storage disease |
| RAD51C | pie corto |
| RAF1 | Pigmentary pallidal degeneration |
| RAG1 | Pili torti-deafness syndrome |
| RAG2 | Pilomatrixoma |
| RAI1 | Pitt-Hopkins syndrome |
| RANBP2 | Pitt-Hopkins-like syndrome 2 |
| RAPSN | Plagiocephaly |
| RARB |
Platyspondylic dysplasia, Torrance type
|
| RARS2 |
PLIN1-related familial partial lipodystrophy
|
| RASA1 |
PMM2-congenital disorder of glycosylation
|
| RASA2 | Poliposis colónica adenomatosa |
| RASGRP2 | Polyglucosan body myopathy |
| RBBP8 | Polyhydramnios |
| RBCK1 | Polymicrogyria |
| RBM10 |
Polysubstance abuse, susceptibility to
|
| RBM8A | Pontocerebellar hypoplasia type 6 |
| RECQL4 | Pontocerebellar hypoplasia, type 12 |
| RELN | Poor suck |
| RET | Porfiria intermitente aguda |
| RFT1 | Porfiria variegada |
| RFX6 | Porphobilinogen synthase deficiency |
| RIPK4 | Postaxial hand polydactyly |
| RIT1 | Posterior embryotoxon |
| RMND1 | Posteriorly rotated ears |
| RMRP | Potassium-aggravated myotonia |
| RNASEH2A |
PPARG-related familial partial lipodystrophy
|
| RNASEH2B | Preeclampsia |
| RNASEH2C | Primary adrenocortical insufficiency |
| RNASET2 | Primary ciliary dyskinesia 12 |
| ROBO3 | Primary coenzyme Q10 deficiency 8 |
| ROGDI | Primary dilated cardiomyopathy |
| ROR2 |
Primary familial hypertrophic cardiomyopathy
|
| RPE65 | Primary hyperoxaluria type 3 |
| RPGRIP1 | Primary hyperoxaluria, type I |
| RPGRIP1L | Primary hypomagnesemia |
| RPL11 | Progressive |
| RPL15 |
Progressive demyelinating neuropathy with bilateral striatal necrosis
|
| RPL26 |
Progressive encephalopathy with leukodystrophy due to DECR deficiency
|
| RPL35A |
Progressive external ophthalmoplegia
|
| RPL5 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
|
| RPN2 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
|
| RPS10 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
|
| RPS19 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
|
| RPS24 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
|
| RPS26 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
|
| RPS28 |
Progressive familial heart block, type 1A
|
| RPS29 |
Progressive familial intrahepatic cholestasis
|
| RPS6KA3 |
Progressive familial intrahepatic cholestasis type 2
|
| RPS7 |
Progressive familial intrahepatic cholestasis type 3
|
| RPSA | Progressive microcephaly |
| RRAS |
Progressive myoclonic epilepsy type 3
|
| RRM2B | Progressive osseous heteroplasia |
| RSPH1 |
Progressive sclerosing poliodystrophy
|
| RSPH3 | Proline dehydrogenase deficiency |
| RSPH4A | Prominent forehead |
| RSPH9 | Prominent nasal bridge |
| RTEL1 | Propionic acidemia |
| RTTN | Prostate cancer, hereditary, 1 |
| RUNX1 | Prostate cancer, hereditary, 2 |
| RUNX2 | Proteinuria |
| RXYLT1 | Proteinuria, chronic benign |
| RYR1 |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
|
| SALL1 | Proteus syndrome |
| SALL4 |
Protoporfiria eritropoyética ligada al cromosoma X
|
| SAMHD1 | Protoporphyria, erythropoietic, 1 |
| SAR1B | Protruding ear |
| SARS2 | Protruding tongue |
| SATB2 | Proximal amyotrophy |
| SBDS | Proximal muscle weakness |
| SC5D |
Proximal myopathy with extrapyramidal signs
|
| SCARF2 | Proximal placement of thumb |
| SCN11A | PSAT deficiency |
| SCN1A | Pseudo-Hurler polydystrophy |
| SCN1B | Pseudohypoparathyroidism |
| SCN2A | Pseudohypoparathyroidism type 1B |
| SCN4A | Pseudohypoparathyroidism type 1C |
| SCN4B | Pseudopseudohypoparathyroidism |
| SCN5A |
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
|
| SCN8A | Ptosis |
| SCN9A | Puente nasal ancho |
| SCNN1A | Pulmonary alveolar proteinosis |
| SCNN1B |
Pulmonary hypertension, neonatal, susceptibility to
|
| SCNN1G | Pulmonary hypertension, primary, 1 |
| SCO1 | Pulmonary hypertension, primary, 3 |
| SCO2 |
Purine-nucleoside phosphorylase deficiency
|
| SDCCAG8 | PYCR1-related de Barsy syndrome |
| SDHAF1 | Pyknodysostosis |
| SDHB |
Pyogenic bacterial infections due to MyD88 deficiency
|
| SDHD |
Pyridoxal phosphate-responsive seizures
|
| SEC23B | Pyridoxine-dependent epilepsy |
| SECISBP2 | Pyruvate carboxylase deficiency |
| SEMA3E |
Pyruvate dehydrogenase complex deficiency
|
| SEPSECS |
Pyruvate dehydrogenase E1-alpha deficiency
|
| SERAC1 |
Pyruvate dehydrogenase E1-beta deficiency
|
| SERPINA1 |
Pyruvate dehydrogenase E2 deficiency
|
| SERPINC1 |
Pyruvate dehydrogenase E3 deficiency
|
| SERPINF1 |
Pyruvate dehydrogenase E3-binding protein deficiency
|
| SERPING1 |
Pyruvate dehydrogenase phosphatase deficiency
|
| SERPINH1 |
Pyruvate kinase deficiency of red cells
|
| SERPINI1 | Pyruvate kinase hyperactivity |
| SETBP1 |
Queratodermia palmoplantar autosómica dominante y alopecia congénita
|
| SETD5 | Rabson-Mendenhall syndrome |
| SF3B4 | Rafiq syndrome |
| SFTPB |
Raquitismo dependiente de vitamina D, tipo 1
|
| SFTPC |
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
|
| SFTPD | Recurrent infections |
| SFXN4 | Recurrent otitis media |
| SGCE | Reduced eye contact |
| SGSH | Refractory macrocytic anemia |
| SH3PXD2B | Renal carnitine transport defect |
| SHANK3 | Renal cortical microcysts |
| SHH | Renal cyst |
| SHOC2 | Renal cysts and diabetes syndrome |
| SHOX | Renal hypomagnesemia 2 |
| SHOX | Renal hypomagnesemia 4 |
| SIK1 |
Renal hypomagnesemia 5 with ocular involvement
|
| SIL1 | Renal hypomagnesemia 6 |
| SIX1 | Renal tubular acidosis |
| SIX2 | Renal tubular dysfunction |
| SIX3 | Renal tubular dysgenesis |
| SIX5 | Renpenning syndrome |
| SKI | Respiratory acidosis |
| SLC10A2 | Respiratory distress |
| SLC12A1 | Respiratory failure |
| SLC12A5 | Respiratory insufficiency |
| SLC12A6 |
Respiratory insufficiency due to muscle weakness
|
| SLC13A5 | Reticular dysgenesis |
| SLC16A1 |
Reticulate acropigmentation of Kitamura
|
| SLC16A2 | Retinal degeneration |
| SLC17A5 | Retinal dysplasia |
| SLC19A2 | Retinal dystrophy |
| SLC19A3 | Retinitis pigmentosa |
| SLC22A5 | Retinitis pigmentosa 46 |
| SLC25A1 | Retinitis pigmentosa 73 |
| SLC25A12 | Retinosis pigmentaria 59 |
| SLC25A13 | Retrognathia |
| SLC25A15 | Rett syndrome |
| SLC25A19 | Rett syndrome, congenital variant |
| SLC25A20 |
RFT1-congenital disorder of glycosylation
|
| SLC25A22 | Rheumatoid arthritis |
| SLC25A3 |
Rhizomelic chondrodysplasia punctata type 1
|
| SLC25A38 |
Rhizomelic chondrodysplasia punctata type 2
|
| SLC25A4 |
Rhizomelic chondrodysplasia punctata type 3
|
| SLC26A2 |
Rhizomelic chondrodysplasia punctata type 5
|
| SLC26A3 | Rigidez espinal |
| SLC26A4 | Rigidity |
| SLC27A4 | Rotary nystagmus |
| SLC27A5 | Round face |
| SLC29A3 | Saccharopinuria |
| SLC2A1 | Sacral dimple |
| SLC2A10 | Sandal gap |
| SLC2A2 | Sandhoff disease |
| SLC33A1 |
Sarcosine dehydrogenase deficiency
|
| SLC34A1 | Schizophrenia |
| SLC34A3 | Schizophrenia 4 |
| SLC35A1 | Schizophrenia 9 |
| SLC35A2 | Sclerocornea |
| SLC35A3 | Scoliosis |
| SLC35C1 | Seizure |
| SLC35D1 | Seizures, benign familial infantile, 3 |
| SLC37A4 | Seizures, benign familial neonatal, 1 |
| SLC39A13 | Seizures, benign familial neonatal, 2 |
| SLC39A4 | Self-mutilation |
| SLC3A1 | Sengers syndrome |
| SLC46A1 | Sensibilidad aguda al alcohol |
| SLC4A1 | Sensorimotor neuropathy |
| SLC4A4 | Sensorineural hearing loss disorder |
| SLC52A1 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
| SLC52A2 |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
|
| SLC52A3 | Severe muscular hypotonia |
| SLC6A1 |
Severe myoclonic epilepsy in infancy
|
| SLC6A3 |
Severe neonatal-onset encephalopathy with microcephaly
|
| SLC6A5 | Shawl scrotum |
| SLC6A8 | Short chin |
| SLC7A7 | Short foot |
| SLC7A9 | Short nose |
| SLC9A6 | Short QT syndrome type 1 |
| SLIT3 | Short QT syndrome type 2 |
| SLURP1 | Short QT syndrome type 3 |
| SLX4 | Sialidosis tipo 2 |
| SMAD3 | Sialuria |
| SMAD4 | Sick sinus syndrome 1 |
| SMAD6 | Sideroblastic anemia |
| SMAD9 | Sideroblastic anemia 2 |
| SMARCA2 | Signo piramidal anormal |
| SMARCA4 | Simplified gyral pattern |
| SMARCAL1 | Sindactilia tipo 3 |
| SMARCB1 |
Síndrome clásico de deficiencia del transportador de dopamina
|
| SMARCE1 | Síndrome de Aicardi Goutieres |
| SMC1A | Síndrome de Aicardi-Goutieres 1 |
| SMC3 | Síndrome de Aicardi-Goutieres 2 |
| SMPD1 | Síndrome de Aicardi-Goutieres 3 |
| SMS | Síndrome de Aicardi-Goutieres 4 |
| SNAI2 | Síndrome de Aicardi-Goutieres 5 |
| SNAP25 | Síndrome de Aicardi-Goutieres 6 |
| SNAP29 | Síndrome de Aicardi-Goutieres 7 |
| SNIP1 |
Síndrome de alacrima, acalasia y discapacidad intelectual
|
| SNRPB | Síndrome de Andersen-Tawil |
| SNRPN |
Síndrome de atrofia muscular espinal-epilepsia mioclónica progresiva
|
| SNTA1 | Síndrome de Brunner |
| SOD3 |
Síndrome de De Barsy relacionado con ALDH18A1
|
| SOS1 |
Síndrome de deficiencia de creatina cerebral
|
| SOS2 |
Síndrome de deficiencia de GLUT1 de inicio en la infancia 2
|
| SOX10 |
Síndrome de discapacidad intelectual, psicosis y macroorquidismo ligado al cromosoma X
|
| SOX11 |
Síndrome de displasia ósea terminal-defectos pigmentarios
|
| SOX18 | Síndrome de Fanconi del adulto |
| SOX2 |
Síndrome de Kenny-Caffey autosómico dominante
|
| SOX3 | Síndrome de la piel arrugada |
| SOX9 | Síndrome de las artes |
| SP7 |
Síndrome de miocardiopatía-hipotonía-acidosis láctica
|
| SPAG1 |
Síndrome de parkinsonismo-espasticidad ligado al cromosoma X
|
| SPECC1L | Síndrome de QT corto tipo 3 |
| SPEG | Síndrome de Senger |
| SPINK5 |
Síndrome de Simpson-Golabi-Behmel tipo 1
|
| SPR |
Síndrome de sinostosis espondilocarpotarsal
|
| SPRED1 | Síndrome de Sjögren-Larsson |
| SPTA1 | Síndrome de Smith-Lemli-Opitz |
| SPTAN1 | Síndrome de Smith-Magenis |
| SPTB |
Síndrome de sordera-encefalopatía-obesidad-valvulopatía
|
| SPTBN2 | Síndrome de Stickler tipo 1 |
| SPTLC1 |
Síndrome de Stickler, tipo I, ocular no sindrómico
|
| SRCAP | Síndrome de Usher tipo 3B |
| SRD5A3 | Síndrome de Williams |
| SRPX2 | Síndrome de Wolfram |
| SSR4 | Síndrome de Wolfram 2 |
| ST14 | Síndrome de Woodhouse-Sakati |
| ST3GAL3 | Síndrome EAST |
| ST3GAL5 | Síndrome miasténico congénito 11 |
| STAC3 | Síndrome miasténico congénito 16 |
| STAMBP |
Síndrome neurodegenerativo severo con lipodistrofia
|
| STAR | Síndrome tipo wolframio |
| STAT1 | Single transverse palmar crease |
| STAT3 | Situs inversus |
| STIL | Sjögren-Larsson syndrome |
| STK4 |
SLC35A1-congenital disorder of glycosylation
|
| STRA6 |
SLC35A1: trastorno congénito de la glicosilación
|
| STS | SLC39A8-CDG |
| STT3A | Slender build |
| STT3B | Sloping forehead |
| STX1B | Small for gestational age |
| STXBP1 | Somatic sensory dysfunction |
| STXBP2 | Somatotroph adenoma |
| SUCLA2 | sordera neurosensorial parcial |
| SUCLG1 | Spastic ataxia 3 |
| SUGCT | Spastic ataxia 4 |
| SULF1 | Spastic ataxia 5 |
| SUMF1 | Spastic paraparesis |
| SUOX | Spastic paraplegia |
| SURF1 | Spastic tetraplegia |
| SYNE1 | Spasticity |
| SYNE2 |
SRD5A3-congenital disorder of glycosylation
|
| SYNGAP1 |
SRD5A3: trastorno congénito de la glicosilación
|
| SZT2 |
SUDDEN INFANT DEATH SYNDROME
|
| TAB2 |
Susceptibilidad mendeliana ligada al cromosoma X a enfermedades micobacterianas debido a la deficiencia de CYBB
|
| TAC3 | Taquicardia |
| TACO1 | Telecanto |
| TACR3 | Temblor |
| TAFAZZIN | Tetralogía de Fallot |
| TALDO1 | Tirosinemia tipo I |
| TARS2 | Tirosinemia tipo II |
| TAT | Tirosinemia tipo III |
| TBC1D20 |
TMEM165 – trastorno congénito de la glicosilación
|
| TBC1D24 |
Trastorno congénito de la desglicosilación
|
| TBCE |
Trastorno congénito de la glicosilación ALG8
|
| TBX1 |
Trastorno congénito de la glicosilación ALG9
|
| TBX15 |
Trastorno congénito de la glicosilación COG1
|
| TBX19 |
Trastorno congénito de la glicosilación COG7
|
| TBX20 |
Trastorno congénito de la glicosilación, tipo IIr
|
| TBX3 |
Trastorno de la biogénesis del peroxisoma 1A (Zellweger)
|
| TBX4 |
Trastorno de pérdida auditiva neurosensorial
|
| TBX5 |
Trastorno del metabolismo de los ácidos orgánicos
|
| TBX6 |
Trastorno del metabolismo del ciclo de la urea
|
| TBXAS1 | Trastorno relacionado con POLG |
| TCAP | Trombocitopenia 2 |
| TCF12 | Trombocitopenia 4 |
| TCF4 | Trombofilia |
| TCIRG1 |
Trombofilia por defecto de la trombina
|
| TCN2 | Turricefalia |
| TCOF1 | úvula bífida |
| TCTN1 |
Vasculopatía retiniana con leucoencefalopatía cerebral y manifestaciones sistémicas
|
| TCTN2 | Xantinuria tipo II |
| TCTN3 | |
| TDGF1 | |
| TECPR2 | |
| TEK | |
| TERT | |
| TFAP2A | |
| TFAP2B | |
| TFB1M | |
| TG | |
| TGDS | |
| TGFB1 | |
| TGFB2 | |
| TGFB3 | |
| TGFBR1 | |
| TGFBR2 | |
| TGIF1 | |
| TGM1 | |
| TGM5 | |
| TH | |
| THRB | |
| TINF2 | |
| TJP2 | |
| TK2 | |
| TMEM126A | |
| TMEM138 | |
| TMEM165 | |
| TMEM216 | |
| TMEM231 | |
| TMEM237 | |
| TMEM38B | |
| TMEM43 | |
| TMEM67 | |
| TMEM70 | |
| TNFRSF11A | |
| TNFRSF11B | |
| TNFRSF13C | |
| TNFSF11 | |
| TNK2 | |
| TNNI2 | |
| TNNI3K | |
| TNNT1 | |
| TNNT3 | |
| TP63 | |
| TPI1 | |
| TPM2 | |
| TPM3 | |
| TPO | |
| TPP1 | |
| TRAC | |
| TRAP1 | |
| TRAPPC9 | |
| TREX1 | |
| TRHR | |
| TRIM32 | |
| TRIP11 | |
| TRMT10A | |
| TRMU | |
| TRNT1 | |
| TRPA1 | |
| TRPM1 | |
| TRPM6 | |
| TRPS1 | |
| TRPV4 | |
| TSC1 | |
| TSC2 | |
| TSEN2 | |
| TSEN34 | |
| TSEN54 | |
| TSFM | |
| TSHB | |
| TSHR | |
| TSR2 | |
| TTC19 | |
| TTC21B | |
| TTC7A | |
| TTN | |
| TUBA1A | |
| TUBA8 | |
| TUBB | |
| TUBB2A | |
| TUBB2B | |
| TUBB3 | |
| TUBB4A | |
| TUBG1 | |
| TUBGCP6 | |
| TUFM | |
| TULP1 | |
| TUSC3 | |
| TWIST1 | |
| TWNK | |
| TYR | |
| UBA1 | |
| UBE2T | |
| UBE3A | |
| UBE3B | |
| UBR1 | |
| UCP2 | |
| UGT1A1 | |
| UMPS | |
| UNC13D | |
| UPB1 | |
| UPF3B | |
| UQCC2 | |
| UQCC3 | |
| UQCRB | |
| UQCRC2 | |
| UQCRQ | |
| UROD | |
| UROS | |
| USB1 | |
| USH1C | |
| USP9X | |
| UVSSA | |
| VANGL1 | |
| VARS2 | |
| VDR | |
| VEGFC | |
| VIPAS39 | |
| VLDLR | |
| VMA21 | |
| VPS11 | |
| VPS13B | |
| VPS33B | |
| VPS45 | |
| VPS53 | |
| VRK1 | |
| VWF | |
| WAC | |
| WAS | |
| WASHC5 | |
| WDPCP | |
| WDR19 | |
| WDR35 | |
| WDR45 | |
| WDR62 | |
| WDR73 | |
| WDR81 | |
| WFS1 | |
| WNK1 | |
| WNT1 | |
| WNT10A | |
| WNT3 | |
| WNT5A | |
| WNT7A | |
| WT1 | |
| WWOX | |
| XDH | |
| XIAP | |
| XPA | |
| XPC | |
| XRCC2 | |
| XYLT1 | |
| YARS2 | |
| ZAP70 | |
| ZBTB24 | |
| ZC4H2 | |
| ZEB2 | |
| ZFP57 | |
| ZFPM2 | |
| ZIC2 | |
| ZIC3 | |
| ZMPSTE24 | |
| ZMYND10 | |
| ZNF141 | |
| ZNF335 |
Estudio de Autismo Genético más ADNFarma y GenoKIDS
$18,100 MN
Panel de Autismo
Tabla de genes y condiciones
| GENES | CONDICIONES |
| ANK3 (10q21.2) | Síndrome de discapacidad intelectual, hipotonía, espasticidad y trastorno del sueño |
| ANKRD11 (16q24.3) | Síndrome de Aarskog |
| AP1S2 (Xp22.2) | Patrón anormal de respiración |
| ARX (Xp21.3) | Patrón de habla anormal |
| ATRX (Xq21.1) | Anormalidad del sistema nervioso autónomo |
| AUTS2 (7q11.22) | Anormalidad del ojo |
| AVPR1A (12q14.2) | Enfermedad de la hemoglobina H adquirida |
| BDNF (11p14.1) | Acrocianosis |
| BRAF (7q34) | Síndrome de Allan-Herndon-Dudley |
| CACNA1C (12p13.33) |
Síndrome de discapacidad intelectual ligado al cromosoma X y alfa talasemia
|
| BARRIL (Xp11.4) | Anemia hemolítica no esferocítica por deficiencia de G6PD |
| CDKL5 (Xp22.13) | Síndrome de Angelman |
| CHD7 (8q12.2) | Ansiedad |
| CHD8 (14q11.2) |
Síndrome de Asperger, ligado al cromosoma X, susceptibilidad a, 1
|
| CNTNAP2 (7q35-36.1) |
Síndrome de Asperger, ligado al cromosoma X, susceptibilidad a, 2
|
| CNTNAP5 (2q14.3) | Autismo |
| CREBBP (16p13.3) | trastorno del espectro autista |
| DHCR7 (11q13.4) |
Trastorno del espectro autista debido a la deficiencia de AUTS2
|
| DLGAP2 (8p23.3) | Autismo, susceptibilidad a, 15 |
| DMD (Xp21.2-21.1) | Autismo, susceptibilidad a, 16 |
| DOCK4 (7q31.1) | Autismo, susceptibilidad a, 17 |
| DPP10 (2q14.1) | Autismo, susceptibilidad a, ligado al cromosoma X 1 |
| DPP6 (7q36.2) | Autismo, susceptibilidad a, ligado al cromosoma X 2 |
| EHMT1 (9q34.3) | Autismo, susceptibilidad a, ligado al cromosoma X 3 |
| FGD1 (Xp11.22) | Autismo, susceptibilidad a, ligado al cromosoma X 5 |
| FMR1 (Xq27.3) | Síndrome de Bannayan-Riley-Ruvalcaba |
| FOLR1 (11q13.4) | Distrofia muscular de Becker |
| FOXG1 (14q12) | Síndrome de Beckwith-Wiedemann |
| FOXP1 (3p13) |
Blefarofimosis – síndrome de discapacidad intelectual, tipo MKB
|
| FOXP2 (7q31.1) | Síndrome de Borjeson-Forssman-Lehmann |
| GABRB3 (15q12) | Braquidactilia |
| GABRG1 (4p12) | Síndrome de Brugada 3 |
| GNA14 (9q21.2) | Bulimia nerviosa, susceptibilidad a, 1 |
| GRIN2B (12p13.1) | Síndrome de CHARGE |
| GRPR (Xp22.2) | carcinoma de colon |
| HOXA1 (7p15.2) | Arritmia cardíaca |
| HPRT1 (Xq26.2-26.3) | Síndrome cardiofaciocutáneo |
| HUWE1 (Xp11.22) | Catarata 40 |
| IL1RAPL1 (Xp21.3-21.2) | Deficiencia del transporte cerebral de folato |
| IMMP2L (7q31.1) | Apraxia del habla infantil |
| KATNAL2 (18q21.1) | Síndrome de Christianson |
| KCTD13 (16p11.2) | Síndrome de deleción del cromosoma 2p16.3 |
| KDM5C (Xp11.22) | Síndrome de deleción del cromosoma 2q32-q33 |
| KIRREL3 (11q24.2) | Síndrome de Coffin-Lowry |
| L1CAM (Xq28) | deterioro cognitivo |
| LAMC3 (9q34.12) | Síndrome de Cohen |
| MBD5 (2q23.1) | Hipoventilación central congénita |
| MECP2 (Xq28) | Síndrome de hipertrofia muscular cerebral congénita |
| MED12 (Xq13.1) | Síndrome de Cornelia de Lange 1 |
| MEF2C (5q14.3) |
Síndrome de agenesia del cuerpo calloso-genitales anormales
|
| MET (7q31.2) | Síndrome de displasia cortical-epilepsia focal |
| MID1 (Xp22.2) | Síndrome de Cowden |
| NEGR1 (1p31.1) | Retraso en el desarrollo del habla y del lenguaje |
| Servicio Nacional de Salud (Xp22.2-22.13) | Enfermedad de las abolladuras tipo 2 |
| NIPBL (5p13.2) | Encefalopatía epiléptica y del desarrollo, 1 |
| NLGN3 (Xq13.1) | Encefalopatía epiléptica y del desarrollo, 11 |
| NLGN4X (Xp22.32-22.31) | Encefalopatía epiléptica y del desarrollo, 2 |
| NRXN1 (2p16.3) | Encefalopatía epiléptica y del desarrollo, 9 |
| NSD1 (5q35.3) | regresión del desarrollo |
| NTNG1 (1p13.3) | Miocardiopatía dilatada 3B |
| OCRL (Xq26.1) | distrofia muscular de Duchenne |
| OPHN1 (Xq12) | Anormalidad del EEG |
| PAFAH1B1 (17p13.3) | carcinoma endometrial |
| PCDH19 (Xq22.1) | Epilepsia, ausencia infantil, susceptibilidad a, 5 |
| PCDH9 (13q21.32) | Síndrome de FG 1 |
| PDE10A (6q27) | Meningioma familiar |
| PHF6 (Xq26.2) | Cabello fino |
| PIP5K1B (9q21.11) | Síndrome del cromosoma X frágil |
| PNKP (19q13.33) |
Síndrome de temblor/ataxia asociado al cromosoma X frágil
|
| PON3 (7q21.3) | Trastorno de la marcha |
| PQBP1 (Xp11.23) |
Epilepsia generalizada con convulsiones febriles más tipo 2
|
| PTCHD1 (Xp22.11) | Susceptibilidad al glioma 2 |
| PTEN (10q23.31) | Hemiplejia/hemiparesia |
| PTPN11 (12q24.13) | carcinoma hepatocelular |
| RAB39B (Xq28) | Enfermedad hereditaria |
| RAI1 (17p11.2) | Paraplejía espástica hereditaria 4 |
| RBFOX1 (16p13.3) | Síndromes humanos HOXA1 |
| RELN (7q22.1) | Hipertonía |
| RPL10 (Xq28) | Hipogonadismo hipogonadotrópico 5 con o sin anosmia |
| RPS6KA3 (Xp22.12) | Hipotonía |
| SATB2 (2q33.1) | Incoordinación |
| SCN1A (2q24.3) |
Trastorno del desarrollo intelectual con autismo y macrocefalia
|
| SCN2A (2q24.3) | Discapacidad intelectual ligada al cromosoma X 19 |
| SHANK2 (11q13.3-13.4) | Discapacidad intelectual ligada al cromosoma X 21 |
| SHANK3 (22q13.33) | Discapacidad intelectual ligada al cromosoma X 72 |
| SLC16A2 (Xq13.2) |
Discapacidad intelectual, sindrómica ligada al cromosoma X, tipo Turner
|
| SLC6A4 (17q11.2) |
Discapacidad intelectual, ligada al cromosoma X, con o sin convulsiones, relacionada con el síndrome de Down.
|
| SLC9A6 (Xq26.3) | Discapacidad intelectual autosómica dominante 1 |
| SLC9A9 (3q24) | Discapacidad intelectual autosómica dominante 20 |
| SMC1A (Xp11.22) | Discapacidad intelectual autosómica dominante 4 |
| SMG6 (17p13.3) | Discapacidad intelectual autosómica dominante 5 |
| SNRPN (15q11.2) | Discapacidad intelectual autosómica dominante 6 |
| SOX5 (12p12.1) |
Síndrome de discapacidad intelectual-facies hipotónica, ligado al cromosoma X, 1
|
| SPAST (2p22.3) |
Síndrome de discapacidad intelectual, retraso grave del habla y dismorfia leve
|
| ST7 (7q31.2) | Displasia cortical focal aislada tipo II |
| STK3 (8q22.2) | Microcefalia aislada |
| SYNGAP1 (6p21.32) | leucemia mielomonocítica juvenil |
| TCF4 (18q21.2) | Síndrome de KBG |
| TSC1 (9q34.13) | Síndrome de Kleefstra 1 |
| TSC2 (16p13.3) | Síndrome LEOPARD 1 |
| UBE3A (15q11.2) | Síndrome LEOPARD 3 |
| VPS13B (8q22.2) | Síndrome de Lesch-Nyhan |
| ZEB2 (2q22.3) | Lisencefalia debida a la mutación LIS1 |
| ZNF507 (19q13.11) | Síndrome de Lowe |
| ZNF804A (2q32.1) | Adenocarcinoma de pulmón |
| ZNHIT6 (1p22.3) | Linfangiomiomatosis |
| ACTB (7p22.1) | Síndrome de MASA |
| ADNP (20q13.13) | Síndrome de macrocefalia-autismo |
| ADSL (22q13.1) | Tumor maligno de próstata |
| AHDC1 (1p36.11-35.3) | Melanoma |
| ALDH5A1 (6p22.3) | Melanoma maligno cutáneo, susceptibilidad a, 1 |
| ANK2 (4q25-26) | Metacondromatosis |
| ARHGEF9 (Xq11.1) | Microcefalia, convulsiones y retraso del desarrollo. |
| ARID1B (6q25.3) | Migraña hemipléjica familiar, 3 |
| ASH1L (1q22) | Síndrome de Mowat-Wilson |
| ASXL3 (18q12.1) | Anomalías congénitas múltiples |
| BAZ2B (2q24.2) | Síndrome de Nance-Horan |
| BCKDK (16p11.2) | carcinoma de pulmón de células no pequeñas |
| BCL11A (2p16.1) | Síndrome de Noonan 1 |
| BRSK2 (11p15.5) | Síndrome de Noonan 7 |
| C12orf57 (12p13.31) | Síndrome de Norman-Roberts |
| CACNA2D3 (3p21.1-14.3) | Obesidad |
| CC2D1A (19p13.12) | Trastorno obsesivo compulsivo |
| CDC42BPB (14q32.32) | Paquigiria y polimicrogiria occipital |
| CHAMP1 (13q34) | Carcinoma papilar de células renales tipo 1 |
| Enfermedad coronaria tipo 2 (15q26.1) |
Deficiencia parcial de hipoxantina-guanina fosforribosiltransferasa
|
| CHD3 (17p13.1) | Síndrome de Partington |
| CIC (19q13.2) | Síndrome de Pettigrew |
| CNOT3 (19q13.42) | Síndrome de Phelan-McDermid |
| CNTN6 (3p26.3) | Síndrome de Pitt-Hopkins |
| CSDE1 (1p13.2) | Síndrome tipo Pitt-Hopkins 2 |
| CTCF (16q22.1) | Síndrome de Prader-Willi |
| CTNND2 (5p15.2) | Insuficiencia ovárica prematura 1 |
| CTTNBP2 (7q31.31) | Densidad mineral ósea reducida |
| CUL3 (2q36.2) | Síndrome de Renpenning |
| DDX3X (Xp11.4) | síndrome de Rett |
| DEAF1 (11p15.5) | Síndrome de Rett, variante congénita |
| DISC1 (1q42.2) | Síndrome de Rubinstein-Taybi |
| DLG4 (17p13.1) | Esquizofrenia 15 |
| DNMT3A (2p23.3) | Escoliosis |
| DSCAM (21q22.2) | Escoliosis aislada, susceptibilidad a, 3 |
| DYRK1A (21q22.13) | Convulsión |
| EBF3 (10q26.3) | Convulsiones infantiles benignas familiares, 3 |
| EFR3A (8q24.22) | Epilepsia mioclónica grave en la infancia |
| EP300 (22q13.2) | Encefalopatía neonatal grave con microcefalia |
| GAMT (19p13.3) | Dedo del pie corto |
| GATM (15q21.1) | Anormalidad del sueño |
| GIGYF1 (7q22.1) | Síndrome de Smith-Lemli-Opitz |
| GRIP1 (12q14.3) | Síndrome de Smith-Magenis |
| HCN1 (5p12) | Síndrome de Sotos |
| HIVEP2 (6q24.2) | Carcinoma de células escamosas de cabeza y cuello |
| HNRNPH2 (Xq22.1) | Trastorno del movimiento estereotipado |
| HNRNPU (1q44) | Susceptibilidad a la bulimia nerviosa |
| HRAS (11p15.5) |
Discapacidad intelectual sindrómica ligada al cromosoma X tipo Claes-Jensen
|
| IQSEC2 (Xp11.22) |
Discapacidad intelectual sindrómica ligada al cromosoma X tipo Lubs
|
| IRF2BPL (14q24.3) |
Discapacidad intelectual sindrómica ligada al cromosoma X tipo Najm
|
| KANSL1 (17q21.31) | Cáncer de tiroides no medular, 2 |
| KCNB1 (20q13.13) | Síndrome de Timothy |
| KCNQ3 (8q24.22) | Esclerosis tuberosa 1 |
| KDM3B (5q31.2) | Esclerosis tuberosa 2 |
| KDM5B (1q32.1) | VACTERL con hidrocefalia |
| KDM6B (17p13.1) | Fibrilación ventricular paroxística familiar, 2 |
| KMT2A (11q23.3) | Pérdida de peso |
| KMT2C (7q36.1) | Síndrome de Opitz G/BBB ligado al cromosoma X |
| KMT2E (7q22.3) |
Disgenesia complicada del cuerpo calloso ligada al cromosoma X
|
| KMT5B (11q13.2) | Síndrome de hidrocefalia ligado al cromosoma X |
| KRAS (12p12.1) |
Discapacidad intelectual ligada al cromosoma X con hábito marfanoide
|
| MAGEL2 (15q11.2) |
Síndrome de discapacidad intelectual ligada al cromosoma X-hipoplasia cerebelosa
|
| MAOA (Xp11.3) |
Síndrome de discapacidad intelectual, psicosis y macroorquidismo ligado al cromosoma X
|
| MBOAT7 (19q13.42) |
Lisencefalia ligada al cromosoma X con genitales anormales
|
| MED13 (17q23.2) |
Síndrome de malformaciones del desarrollo, sordera y distonía
|
| MED13L (12q24.21) |
Anomalías congénitas múltiples relacionadas con ADNP – discapacidad intelectual – trastorno del espectro autista
|
| MEIS2 (15q14) |
Discapacidad intelectual relacionada con AHDC1 – apnea obstructiva del sueño – síndrome de dismorfia leve
|
| MYT1L (2p25.3) | leucemia mieloide aguda |
| NAA15 (4q31.1) | Deficiencia de adenilosuccinato liasa |
| NACC1 (19p13.13) | Deficiencia de arginina:glicina amidinotransferasa |
| NBEA (13q13.3) | Atrofia bulbosa hereditaria |
| PND (Xp11.3) | Autismo, susceptibilidad a, 5 |
| NEXMIF (Xq13.3) | Autismo, susceptibilidad a, ligado al cromosoma X 4 |
| NFIX (19p13.13) | Síndrome linfoproliferativo autoinmune tipo 4 |
| NR4A2 (2q24.1) | Distrofia muscular de cinturas autosómica recesiva tipo 2O |
| NRXN3 (14q24.3-31.1) | Síndrome de Baraitser-Winter 1 |
| PACS1 (11q13.1-13.2) |
Deficiencia de la quinasa deshidrogenasa de cetoácido de cadena ramificada
|
| PHF21A (11p11.2) | Síndrome de Brunner |
| PHF3 (6q12) | carcinoma de páncreas |
| POGZ (1q21.3) |
Anomalías cardíacas – retraso del desarrollo – síndrome de dismorfia facial
|
| POMGNT1 (1p34.1) | Arritmia cardíaca relacionada con la anquirina B |
| PPP1CB (2p23.2) |
Malformación cardíaca, labio hendido/paladar hendido, microcefalia y anomalías digitales
|
| PPP2R5D (6p21.1) |
Anomalías cardíacas, faciales y digitales con retraso del desarrollo.
|
| PRR12 (19q13.33) | Síndrome cardiofaciocutáneo 1 |
| PSMD12 (17q24.2) | Síndrome cardiofaciocutáneo 2 |
| RAD21 (8q24.11) | Malformación arteriovenosa cerebral |
| RAF1 (3p25.2) | Síndrome de Clark-Baraitser |
| RERE (1p36.23) | Síndrome de Coffin-Siris 1 |
| RFX3 (9p24.2) | Síndrome de Coffin-Siris 8 |
| SCN8A (12q13.13) | Deterioro cognitivo con o sin ataxia cerebelosa |
| SETBP1 (18q12.3) | cáncer colorrectal |
| SETD2 (3p21.31) | Distrofia corneal endotelial de Fuchs, 3 |
| SETD5 (3p25.3) | Síndrome de Cornelia de Lange 4 |
| SGSH (17q25.3) | Síndrome de Costello |
| SIN3A (15q24.2) | Síndrome de Cowden 1 |
| SLC6A1 (3p25.3) |
Síndrome de discapacidad intelectual relacionado con DYRK1A
|
| SMAD4 (18q21.2) |
Síndrome de DeSanto-Shinawi debido a la mutación puntual WAC
|
| SMARCC2 (12q13.2) | Deficiencia de guanidinoacetato metiltransferasa |
| HIJO (21q22.11) | Encefalopatía epiléptica y del desarrollo 94 |
| STXBP1 (9q34.11) | Encefalopatía epiléptica y del desarrollo, 13 |
| STXBP5 (6q24.3) | Encefalopatía epiléptica y del desarrollo, 24 |
| TANC2 (17q23.2-23.3) | Encefalopatía epiléptica y del desarrollo, 26 |
| TAOK1 (17q11.2) | Encefalopatía epiléptica y del desarrollo, 27 |
| TBC1D20 (20p13) | Encefalopatía epiléptica y del desarrollo, 4 |
| TBCK (4q24) | Encefalopatía epiléptica y del desarrollo, 43 |
| TBL1XR1 (3q26.32) | Encefalopatía epiléptica y del desarrollo, 54 |
| TBR1 (2q24.2) | Encefalopatía epiléptica y del desarrollo, 8 |
| TCF20 (22q13.2) |
Retraso del desarrollo con deterioro intelectual variable y anomalías del comportamiento.
|
| TLK2 (17q23.2) | Síndrome de Dias-Logan |
| TNRC6B (22q13.1) | Síndrome de Diets-Jongman |
| TRAF7 (16p13.3) | Miocardiopatía dilatada 1NN |
| TRÍO (5p15.2) |
Síndrome de parkinsonismo-discapacidad intelectual de inicio temprano
|
| TRIP12 (2q36.3) | Nevo epidérmico |
| TSHZ3 (19q12) | Epilepsia con convulsiones atónicas mioclónicas |
| UPF3B (Xq24) | Ataxia episódica, tipo 9 |
| WAC (10p12.1) | Vitreorretinopatía exudativa 2, ligada al cromosoma X |
| WDFY3 (4q21.23) | Síndrome de FG 4 |
| ZBTB20 (3q13.31) | Cáncer de mama familiar |
| ZMYND11 (10p15.3) | Epilepsia familiar del lóbulo temporal 7 |
| ZNF292 (6q14.3) | Síndrome renotubular de Fanconi 1 |
| ZNF407 (18q22.3) | Síndrome de Fraser 3 |
| ZNF462 (9q31.2) |
Epilepsia generalizada con convulsiones febriles más, tipo 10
|
| FRAT1 | Poliposis juvenil generalizada/poliposis juvenil coli |
| Adenocarcinoma gástrico difuso hereditario | |
| Síndrome de Heyn-Sproul-Jackson | |
| Síndrome de Hogue-Janssens 1 | |
| Síndrome de hipotonía, ataxia y retraso del desarrollo | |
|
Hipotonía infantil con retraso psicomotor y facies característica 3
|
|
| Trastorno del desarrollo intelectual 61 | |
| Trastorno del desarrollo intelectual 62 | |
|
Intellectual developmental disorder with autistic features and language delay, with or without seizures
|
|
|
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
|
|
|
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
|
|
|
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
|
|
| Intellectual disability, X-linked 1 | |
| Intellectual disability, X-linked 102 | |
| Intellectual disability, X-linked 72 | |
| Intellectual disability, X-linked, syndromic, Bain type | |
|
Intellectual disability, X-linked, with or without seizures, arx-related
|
|
| Intellectual disability, autosomal dominant 1 | |
| Intellectual disability, autosomal dominant 24 | |
| Intellectual disability, autosomal dominant 29 | |
| Intellectual disability, autosomal dominant 30 | |
| Intellectual disability, autosomal dominant 39 | |
| Intellectual disability, autosomal dominant 40 | |
| Intellectual disability, autosomal dominant 41 | |
| Intellectual disability, autosomal dominant 43 | |
| Intellectual disability, autosomal dominant 45 | |
| Intellectual disability, autosomal dominant 5 | |
| Intellectual disability, autosomal dominant 50 | |
| Intellectual disability, autosomal dominant 51 | |
| Intellectual disability, autosomal dominant 52 | |
| Intellectual disability, autosomal dominant 57 | |
| Intellectual disability, autosomal dominant 6 | |
| Intellectual disability, autosomal recessive 3 | |
| Intellectual disability, autosomal recessive 57 | |
| Intellectual disability, autosomal recessive 65 | |
| Intellectual disability-epilepsy-extrapyramidal syndrome | |
|
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
|
|
|
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
|
|
|
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
|
|
|
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
|
|
|
Intellectual disability-severe speech delay-mild dysmorphism syndrome
|
|
| Isolated focal cortical dysplasia type II | |
| Juvenile myelomonocytic leukemia | |
|
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
|
|
| KBG syndrome | |
| Kleefstra syndrome 1 | |
| Kleefstra syndrome 2 | |
| Koolen-de Vries syndrome | |
| LEOPARD syndrome 1 | |
| LEOPARD syndrome 2 | |
| LEOPARD syndrome 3 | |
| Lamb-Shaffer syndrome | |
| Large congenital melanocytic nevus | |
| Linear nevus sebaceous syndrome | |
| Long qt syndrome 8 | |
| Lung carcinoma | |
| Luscan-Lumish syndrome | |
| Lymphangiomyomatosis | |
| Macrocephaly-autism syndrome | |
| Malan overgrowth syndrome | |
| Malignant tumor of prostate | |
| Malignant tumor of urinary bladder | |
| Marshall-Smith syndrome | |
| Menke-Hennekam syndrome 1 | |
| Menke-Hennekam syndrome 2 | |
| Metachondromatosis | |
| Microcephaly 18, primary, autosomal dominant | |
|
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
|
|
| Migraine, familial hemiplegic, 3 | |
| Mucopolysaccharidosis, MPS-III-A | |
| Mungan syndrome | |
| Muscle eye brain disease | |
|
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
|
|
| Myhre syndrome | |
| Myoclonus, familial, 2 | |
|
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
|
|
|
Trastorno del neurodesarrollo con epilepsia, cataratas, dificultades de alimentación y retraso en la mielinización cerebral.
|
|
|
Trastorno del desarrollo neurológico con o sin anomalías del cerebro, los ojos o el corazón.
|
|
|
Trastorno del desarrollo neurológico con regresión, movimientos anormales, pérdida del habla y convulsiones.
|
|
| Síndrome de Noonan 3 | |
| Síndrome de Noonan 5 | |
|
Trastorno similar al síndrome de Noonan con pérdida de cabello anágeno 2
|
|
| Síndrome de O’Donnell-Luria-Rodan | |
| Síndrome de Pierpont | |
| Síndrome de Primrose | |
| Pseudohipoaldosteronismo tipo 2E | |
| Retinosis pigmentaria 76 | |
|
Síndrome de Rubinstein-Taybi debido a mutaciones de CREBBP
|
|
|
Síndrome de Rubinstein-Taybi debido a haploinsuficiencia EP300
|
|
|
Síndrome de discapacidad intelectual relacionado con SIN3A debido a una mutación puntual
|
|
| Síndrome de Schaaf-Yang | |
| Síndrome de Schinzel-Giedion | |
| Esquizofrenia 9 | |
| Síndrome de Schuurs-Hoeijmakers | |
| Convulsiones benignas familiares infantiles, 5 | |
| Convulsiones neonatales benignas familiares, 2 | |
|
Dificultades graves de alimentación, retraso del crecimiento y microcefalia debido al síndrome de deficiencia de ASXL3
|
|
| Síndrome de Snijders Blok-Campeau | |
| Síndrome de Stankiewicz-Isidor | |
| Deficiencia de succinato-semialdehído deshidrogenasa | |
|
Discapacidad intelectual sindrómica ligada al cromosoma X 14
|
|
| Síndrome de sobrecrecimiento de Tatton-Brown-Rahman | |
| Síndrome de Temtamy | |
| Síndrome de Toriello-Lacassie-Droste | |
| Transposición de las grandes arterias, dextro-asas | |
| Microsíndrome de Warburg 4 | |
| Síndrome de Weiss-Kruszka | |
| Síndrome de Wiedemann-Steiner | |
|
Discapacidad intelectual ligada al cromosoma X, tipo Cantagrel
|
|
| Síndrome ZTTK |
Panel de Autismo + Panel de discapcidad intelecual + ADNFarma y GenoKIDS
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Tabla de genes y condiciones
| GENES | CONDICIONES |
| ANK3 (10q21.2) | Deficiencia de transaminasa del ácido gamma-aminobutírico |
| ANKRD11 (16q24.3) | Deficiencia de 3-metilcrotonil-CoA carboxilasa 2 |
| AP1S2 (Xp22.2) | Síndrome 3M 1 |
| ARX (Xp21.3) | Deficiencia de 6-piruvoil-tetrahidrobiopterina sintasa |
| ATRX (Xq21.1) | Síndrome ABCD |
| AUTS2 (7q11.22) |
Anomalías congénitas múltiples relacionadas con ADNP – discapacidad intelectual – trastorno del espectro autista
|
| AVPR1A (12q14.2) |
Discapacidad intelectual relacionada con AHDC1 – apnea obstructiva del sueño – síndrome de dismorfia leve
|
| BDNF (11p14.1) | ALG11 – trastorno congénito de la glicosilación |
| BRAF (7q34) | Síndrome de Aarskog |
| CACNA1C (12p13.33) | Acromatopsia 3 |
| BARRIL (Xp11.4) | Enfermedad de la hemoglobina H adquirida |
| CDKL5 (Xp22.13) | Síndrome acrocalloso |
| CHD7 (8q12.2) | deficiencia de adenosina quinasa |
| CHD8 (14q11.2) | Deficiencia de adenilosuccinato liasa |
| CNTNAP2 (7q35-36.1) | Adrenoleucodistrofia |
| CNTNAP5 (2q14.3) | Síndrome de la fase avanzada del sueño 1 |
| CREBBP (16p13.3) | Síndrome de Aicardi-Goutieres 2 |
| DHCR7 (11q13.4) | Síndrome de Aicardi-Goutieres 3 |
| DLGAP2 (8p23.3) | Síndrome de Aicardi-Goutieres 4 |
| DMD (Xp21.2-21.1) | Síndrome de Aicardi-Goutieres 5 |
| DOCK4 (7q31.1) | Aicardi-Goutieres syndrome 6 |
| DPP10 (2q14.1) |
Alacrima, achalasia, and intellectual disability syndrome
|
| DPP6 (7q36.2) | Alazami-Yuan syndrome |
| EHMT1 (9q34.3) | Alexander disease |
| FGD1 (Xp11.22) | Allan-Herndon-Dudley syndrome |
| FMR1 (Xq27.3) | Alpha-N-acetylgalactosaminidase deficiency type 1 |
| FOLR1 (11q13.4) | Alzheimer disease 9 |
| FOXG1 (14q12) | Amelocerebrohypohidrotic syndrome |
| FOXP1 (3p13) | Amish lethal microcephaly |
| FOXP2 (7q31.1) | Amyotrophic lateral sclerosis type 1 |
| GABRB3 (15q12) |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
|
| GABRG1 (4p12) | Angelman syndrome |
| GNA14 (9q21.2) |
Anophthalmia/microphthalmia-esophageal atresia syndrome
|
| GRIN2B (12p13.1) | Anterior segment dysgenesis 7 |
| GRPR (Xp22.2) | Antigen in Cartwright blood group system |
| HOXA1 (7p15.2) | Anxiety |
| HPRT1 (Xq26.2-26.3) | Arrhythmogenic right ventricular dysplasia 13 |
| HUWE1 (Xp11.22) | Asperger syndrome, X-linked, susceptibility to, 1 |
| IL1RAPL1 (Xp21.3-21.2) |
Ataxia – intellectual disability – oculomotor apraxia – cerebellar cysts syndrome
|
| IMMP2L (7q31.1) |
Autism spectrum disorder – epilepsy – arthrogryposis syndrome
|
| KATNAL2 (18q21.1) | Autism spectrum disorder due to AUTS2 deficiency |
| KCTD13 (16p11.2) | Autism, susceptibility to, 15 |
| KDM5C (Xp11.22) | Autism, susceptibility to, 16 |
| KIRREL3 (11q24.2) | Autism, susceptibility to, 17 |
| L1CAM (Xq28) | Autism, susceptibility to, 5 |
| LAMC3 (9q34.12) | Autism, susceptibility to, X-linked 2 |
| MBD5 (2q23.1) | Autism, susceptibility to, X-linked 3 |
| MECP2 (Xq28) | Autism, susceptibility to, X-linked 4 |
| MED12 (Xq13.1) | Autosomal dominant Robinow syndrome 1 |
| MEF2C (5q14.3) | Autosomal dominant Robinow syndrome 3 |
| MET (7q31.2) |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
|
| MID1 (Xp22.2) |
Autosomal dominant non-syndromic intellectual disability
|
| NEGR1 (1p31.1) | Autosomal dominant nonsyndromic hearing loss 27 |
| Servicio Nacional de Salud (Xp22.2-22.13) |
Autosomal dominant pseudohypoaldosteronism type 1
|
| NIPBL (5p13.2) |
Autosomal dominant slowed nerve conduction velocity
|
| NLGN3 (Xq13.1) | Autosomal recessive Kenny-Caffey syndrome |
| NLGN4X (Xp22.32-22.31) | Autosomal recessive Robinow syndrome |
| NRXN1 (2p16.3) | Autosomal recessive ataxia, Beauce type |
| NSD1 (5q35.3) |
Autosomal recessive limb-girdle muscular dystrophy type 2D
|
| NTNG1 (1p13.3) |
Autosomal recessive limb-girdle muscular dystrophy type 2I
|
| OCRL (Xq26.1) |
Autosomal recessive limb-girdle muscular dystrophy type 2T
|
| OPHN1 (Xq12) |
Autosomal recessive limb-girdle muscular dystrophy type 2U
|
| PAFAH1B1 (17p13.3) | Autosomal recessive nonsyndromic hearing loss 21 |
| PCDH19 (Xq22.1) | Autosomal recessive nonsyndromic hearing loss 28 |
| PCDH9 (13q21.32) | Autosomal recessive nonsyndromic hearing loss 48 |
| PDE10A (6q27) | Autosomal recessive omodysplasia |
| PHF6 (Xq26.2) | Autosomal recessive proximal renal tubular acidosis |
| PIP5K1B (9q21.11) | Autosomal recessive spinocerebellar ataxia 12 |
| PNKP (19q13.33) | Autosomal recessive spinocerebellar ataxia 18 |
| PON3 (7q21.3) | Axenfeld-Rieger syndrome type 1 |
| PQBP1 (Xp11.23) | Axenfeld-Rieger syndrome type 3 |
| PTCHD1 (Xp22.11) | BENTA disease |
| PTEN (10q23.31) | Baraitser-Winter syndrome 1 |
| PTPN11 (12q24.13) | Baraitser-winter syndrome 2 |
| RAB39B (Xq28) | Bardet-Biedl syndrome 13 |
| RAI1 (17p11.2) | Bardet-Biedl syndrome 14 |
| RBFOX1 (16p13.3) | Bardet-Biedl syndrome 4 |
| RELN (7q22.1) | Bardet-Biedl syndrome 6 |
| RPL10 (Xq28) | Barrett esophagus |
| RPS6KA3 (Xp22.12) | Bilateral frontoparietal polymicrogyria |
| SATB2 (2q33.1) | Birk-Barel syndrome |
| SCN1A (2q24.3) | Bleeding disorder, platelet-type, 24 |
| SCN2A (2q24.3) |
Blepharophimosis-impaired intellectual development syndrome
|
| SHANK2 (11q13.3-13.4) | Borjeson-Forssman-Lehmann syndrome |
| SHANK3 (22q13.33) | Bosch-Boonstra-Schaaf optic atrophy syndrome |
| SLC16A2 (Xq13.2) |
Brain small vessel disease 1 with or without ocular anomalies
|
| SLC6A4 (17q11.2) |
Branched-chain keto acid dehydrogenase kinase deficiency
|
| SLC9A6 (Xq26.3) | Branchiooculofacial syndrome |
| SLC9A9 (3q24) | Brugada syndrome 4 |
| SMC1A (Xp11.22) | Brunner syndrome |
| SMG6 (17p13.3) | CEDNIK syndrome |
| SNRPN (15q11.2) | CHIME syndrome |
| SOX5 (12p12.1) | COACH syndrome 2 |
| SPAST (2p22.3) |
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma
|
| ST7 (7q31.2) |
Cardiac anomalies – developmental delay – facial dysmorphism syndrome
|
| STK3 (8q22.2) | Cardiac arrhythmia, ankyrin-B-related |
| SYNGAP1 (6p21.32) |
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
|
| TCF4 (18q21.2) |
Cardiac, facial, and digital anomalies with developmental delay
|
| TSC1 (9q34.13) |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
|
| TSC2 (16p13.3) | Cardiofaciocutaneous syndrome 2 |
| UBE3A (15q11.2) |
Carnitine palmitoyl transferase II deficiency, neonatal form
|
| VPS13B (8q22.2) | Celiac disease, susceptibility to, 4 |
| ZEB2 (2q22.3) |
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
|
| ZNF507 (19q13.11) |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
|
| ZNF804A (2q32.1) |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
|
| ZNHIT6 (1p22.3) |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
|
| ACTB (7p22.1) |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
|
| ADNP (20q13.13) |
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
|
| ADSL (22q13.1) |
Cerebellar atrophy, developmental delay, and seizures
|
| AHDC1 (1p36.11-35.3) |
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
|
| ALDH5A1 (6p22.3) | Cerebral folate transport deficiency |
| ANK2 (4q25-26) | Cerebral palsy, spastic quadriplegic, 2 |
| ARHGEF9 (Xq11.1) |
Cerebroretinal microangiopathy with calcifications and cysts 1
|
| ARID1B (6q25.3) | Cernunnos-XLF deficiency |
| ASH1L (1q22) | Charcot-Marie-Tooth disease type 2B2 |
| ASXL3 (18q12.1) | Charcot-Marie-Tooth disease type 4B3 |
| BAZ2B (2q24.2) | Charcot-Marie-Tooth disease, demyelinating, IIA 1I |
| BCKDK (16p11.2) | Charcot-marie-tooth disease, axonal, type 2DD |
| BCL11A (2p16.1) | Child syndrome |
| BRSK2 (11p15.5) | Childhood apraxia of speech |
| C12orf57 (12p13.31) | Cholestanol storage disease |
| CACNA2D3 (3p21.1-14.3) |
Cholestasis-pigmentary retinopathy-cleft palate syndrome
|
| CC2D1A (19p13.12) | Christianson syndrome |
| CDC42BPB (14q32.32) | Chromosome 1p32-p31 deletion syndrome |
| CHAMP1 (13q34) | Chromosome 2q32-q33 deletion syndrome |
| Enfermedad coronaria tipo 2 (15q26.1) | Ciliary dyskinesia, primary, 44 |
| CHD3 (17p13.1) | Citrullinemia, type II, adult-onset |
| CIC (19q13.2) | Clark-Baraitser syndrome |
| CNOT3 (19q13.42) | Classic dopamine transporter deficiency syndrome |
| CNTN6 (3p26.3) | Classic homocystinuria |
| CSDE1 (1p13.2) | Cleft lip/palate-ectodermal dysplasia syndrome |
| CTCF (16q22.1) | Clubfoot |
| CTNND2 (5p15.2) |
Cobblestone lissencephaly without muscular or ocular involvement
|
| CTTNBP2 (7q31.31) | Coffin-Siris syndrome 1 |
| CUL3 (2q36.2) | Coffin-Siris syndrome 7 |
| DDX3X (Xp11.4) | Coffin-Siris syndrome 8 |
| DEAF1 (11p15.5) | Cohen syndrome |
| DISC1 (1q42.2) |
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
|
| DLG4 (17p13.1) |
Combined immunodeficiency due to DOCK8 deficiency
|
| DNMT3A (2p23.3) | Combined immunodeficiency due to LRBA deficiency |
| DSCAM (21q22.2) |
Complex cortical dysplasia with other brain malformations 2
|
| DYRK1A (21q22.13) |
Complex cortical dysplasia with other brain malformations 7
|
| EBF3 (10q26.3) | Cone-rod dystrophy 7 |
| EFR3A (8q24.22) |
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
|
| EP300 (22q13.2) | Congenital disorder of glycosylation, type IIr |
| GAMT (19p13.3) |
Congenital muscular dystrophy due to integrin alpha-7 deficiency
|
| GATM (15q21.1) | Congenital muscular hypertrophy-cerebral syndrome |
| GIGYF1 (7q22.1) | Congenital myasthenic syndrome 18 |
| GRIP1 (12q14.3) | Congenital nongoitrous hypothyroidism 6 |
| HCN1 (5p12) | Congenital stationary night blindness 1C |
| HIVEP2 (6q24.2) | Conotruncal heart malformations |
| HNRNPH2 (Xq22.1) | Cornelia de Lange syndrome 1 |
| HNRNPU (1q44) | Cornelia de Lange syndrome 3 |
| HRAS (11p15.5) | Cornelia de Lange syndrome 4 |
| IQSEC2 (Xp11.22) | Cornelia de Lange syndrome 5 |
| IRF2BPL (14q24.3) |
Corpus callosum agenesis-abnormal genitalia syndrome
|
| KANSL1 (17q21.31) |
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
|
| KCNB1 (20q13.13) | Cortisone reductase deficiency 2 |
| KCNQ3 (8q24.22) | Costello syndrome |
| KDM3B (5q31.2) |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
|
| KDM5B (1q32.1) | Craniofacial dysplasia – osteopenia syndrome |
| KDM6B (17p13.1) | Craniosynostosis 6 |
| KMT2A (11q23.3) | Creatine transporter deficiency |
| KMT2C (7q36.1) | DEGCAGS syndrome |
| KMT2E (7q22.3) | DYRK1A-related intellectual disability syndrome |
| KMT5B (11q13.2) | Danon disease |
| KRAS (12p12.1) |
DeSanto-Shinawi syndrome due to WAC point mutation
|
| MAGEL2 (15q11.2) | Deafness dystonia syndrome |
| MAOA (Xp11.3) | Deficiency of aromatic-L-amino-acid decarboxylase |
| MBOAT7 (19q13.42) | Deficiency of cytochrome-b5 reductase |
| MED13 (17q23.2) | Deficiency of guanidinoacetate methyltransferase |
| MED13L (12q24.21) | Deficiency of iodide peroxidase |
| MEIS2 (15q14) | Deficiency of steroid 11-beta-monooxygenase |
| MYT1L (2p25.3) | Dent disease type 2 |
| NAA15 (4q31.1) | Developmental and epileptic encephalopathy 101 |
| NACC1 (19p13.13) | Developmental and epileptic encephalopathy 89 |
| NBEA (13q13.3) | Developmental and epileptic encephalopathy 94 |
| PND (Xp11.3) | Developmental and epileptic encephalopathy, 12 |
| NEXMIF (Xq13.3) | Developmental and epileptic encephalopathy, 2 |
| NFIX (19p13.13) | Developmental and epileptic encephalopathy, 24 |
| NR4A2 (2q24.1) | Developmental and epileptic encephalopathy, 26 |
| NRXN3 (14q24.3-31.1) | Developmental and epileptic encephalopathy, 27 |
| PACS1 (11q13.1-13.2) | Developmental and epileptic encephalopathy, 31A |
| PHF21A (11p11.2) | Developmental and epileptic encephalopathy, 33 |
| PHF3 (6q12) | Developmental and epileptic encephalopathy, 34 |
| POGZ (1q21.3) | Developmental and epileptic encephalopathy, 36 |
| POMGNT1 (1p34.1) | Developmental and epileptic encephalopathy, 39 |
| PPP1CB (2p23.2) | Developmental and epileptic encephalopathy, 4 |
| PPP2R5D (6p21.1) | Developmental and epileptic encephalopathy, 42 |
| PRR12 (19q13.33) | Developmental and epileptic encephalopathy, 43 |
| PSMD12 (17q24.2) | Developmental and epileptic encephalopathy, 54 |
| RAD21 (8q24.11) | Developmental and epileptic encephalopathy, 59 |
| RAF1 (3p25.2) | Developmental and epileptic encephalopathy, 67 |
| RERE (1p36.23) | Developmental and epileptic encephalopathy, 69 |
| RFX3 (9p24.2) | Developmental and epileptic encephalopathy, 79 |
| SCN8A (12q13.13) | Developmental and epileptic encephalopathy, 8 |
| SETBP1 (18q12.3) | Developmental and epileptic encephalopathy, 9 |
| SETD2 (3p21.31) |
Developmental delay with autism spectrum disorder and gait instability
|
| SETD5 (3p25.3) |
Developmental delay with or without intellectual impairment or behavioral abnormalities
|
| SGSH (17q25.3) |
Developmental delay with variable intellectual impairment and behavioral abnormalities
|
| SIN3A (15q24.2) | Dias-Logan syndrome |
| SLC6A1 (3p25.3) | Dicarboxylic aminoaciduria |
| SMAD4 (18q21.2) |
Diffuse cerebral and cerebellar atrophy – intractable seizures – progressive microcephaly syndrome
|
| SMARCC2 (12q13.2) | Dihydropyrimidine dehydrogenase deficiency |
| HIJO (21q22.11) | Donnai-Barrow syndrome |
| STXBP1 (9q34.11) | Dyggve-Melchior-Clausen syndrome |
| STXBP5 (6q24.3) | Dyskeratosis congenita, X-linked |
| TANC2 (17q23.2-23.3) | Dyskeratosis congenita, autosomal dominant 3 |
| TAOK1 (17q11.2) |
Dyskinesia with orofacial involvement, autosomal dominant
|
| TBC1D20 (20p13) |
Dyskinesia with orofacial involvement, autosomal recessive
|
| TBCK (4q24) | Dystonia 9 |
| TBL1XR1 (3q26.32) |
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
|
| TBR1 (2q24.2) | EAST syndrome |
| TCF20 (22q13.2) | Early-onset Parkinson disease 20 |
| TLK2 (17q23.2) |
Early-onset parkinsonism-intellectual disability syndrome
|
| TNRC6B (22q13.1) | Ectopia lentis 1, isolated, autosomal dominant |
| TRAF7 (16p13.3) | Elsahy-Waters syndrome |
| TRÍO (5p15.2) |
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
|
| TRIP12 (2q36.3) | Epilepsy with myoclonic atonic seizures |
| TSHZ3 (19q12) |
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
|
| UPF3B (Xq24) | Epilepsy, childhood absence, susceptibility to, 6 |
| WAC (10p12.1) | Epilepsy, progressive myoclonic, 1B |
| WDFY3 (4q21.23) | Episodic ataxia, type 9 |
| ZBTB20 (3q13.31) | Epsilon-trimethyllysine hydroxylase deficiency |
| ZMYND11 (10p15.3) | Exostoses, multiple, type 1 |
| ZNF292 (6q14.3) | Exudative vitreoretinopathy 2, X-linked |
| ZNF407 (18q22.3) | FG syndrome 4 |
| ZNF462 (9q31.2) | FRAXE |
| ABAT (16p13.2) | Familial cancer of breast |
| ABCA7 (19p13.3) | Familial dysfibrinogenemia |
| ABCD1 (Xq28) | Familial meningioma |
| ECA (17q23.3) | Familial temporal lobe epilepsy 7 |
| Dolor (7q22.1) | Fanconi anemia complementation group B |
| ACSL4 (Xq23) | Fanconi renotubular syndrome 1 |
| ACTG1 (17q25.3) | Farber lipogranulomatosis |
| ACTN4 (19q13.2) | Feingold syndrome type 1 |
| ADA (20q13.12) |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
|
| ADAR (1q21.3) | Floating-Harbor syndrome |
| ADAT3 (19p13.3) | Focal dermal hypoplasia |
| ADCY5 (3q21.1) | Focal segmental glomerulosclerosis 1 |
| ADGRG1 (16q21) | Focal segmental glomerulosclerosis 2 |
| ADK (10q22.2) | Focal segmental glomerulosclerosis 6 |
| AFF2 (Xq28) | Foveal hypoplasia 1 |
| AHI1 (6q23.3) | Fragile X-associated tremor/ataxia syndrome |
| AIMP1 (4q24) | Fraser syndrome 3 |
| AKT3 (1q43-44) |
Frontonasal dysplasia with alopecia and genital anomaly
|
| ALDH18A1 (10q24.1) | Gabriele de Vries syndrome |
| ALDH7A1 (5q23.2) | Galloway-Mowat syndrome 8 |
| ALG11 (13q14.3) | Genitopatellar syndrome |
| ALG13 (Xq23) | Gillespie syndrome |
| ALX4 (11p11.2) |
Global developmental delay with or without impaired intellectual development
|
| AMMECR1 (Xq23) | Glutamate pyruvate transaminase 2 deficiency |
| AMPD1 (1p13.2) | Gluthathione peroxidase deficiency |
| AMPD2 (1p13.3) | Glycine encephalopathy |
| AMT (3p21.31) |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
|
| TOBILLO2 (12q24.33) | Glycosylphosphatidylinositol biosynthesis defect 16 |
| AP1S1 (7q22.1) | Goldberg-Shprintzen syndrome |
| AP2M1 (3q27.1) | Gorlin syndrome |
| AP3B1 (5q14.1) | Griscelli syndrome type 1 |
| AP4B1 (1p13.2) |
Growth delay due to insulin-like growth factor I resistance
|
| AP4M1 (7q22.1) |
Growth delay due to insulin-like growth factor type 1 deficiency
|
| ARFGEF2 (20q13.13) | HSD10 mitochondrial disease |
| ARHGEF10 (8p23.3) | Hajdu-Cheney syndrome |
| ARID1A (1p36.11) | Hearing loss, autosomal dominant 71 |
| ARL13B (3q11.1-11.2) | Hearing loss, autosomal dominant 75 |
| ASAH1 (8pág. 22) | Heimler syndrome 1 |
| ASCL1 (12q23.2) | Heimler syndrome 2 |
| ASPM (1q31.3) | Heinz body anemia |
| ASXL1 (20q11.21) | Hepatitis C virus, susceptibility to |
| ATP13A2 (1p36.13) | Hepatocellular carcinoma |
| ATP1A1 (1p13.1) | Hereditary insensitivity to pain with anhidrosis |
| ATP1A3 (19q13.2) | Hereditary leiomyomatosis and renal cell cancer |
| ATP6AP2 (Xp11.4) | Hereditary spastic paraplegia 15 |
| ATP6V0A2 (12q24.31) | Hereditary spastic paraplegia 2 |
| ATP7A (Xq21.1) | Hereditary spastic paraplegia 30 |
| ATP8A2 (13q12.13) | Hereditary spastic paraplegia 4 |
| ATR (3q23) | Hereditary spastic paraplegia 43 |
| B3GALNT2 (1q42.3) | Hereditary spastic paraplegia 47 |
| B4GAT1 (11q13.2) | Hereditary spastic paraplegia 50 |
| B9D1 (17p11.2) | Hereditary spastic paraplegia 55 |
| B9D2 (19q13.2) | Hereditary spastic paraplegia 6 |
| BBS4 (15q24.1) | Hereditary spastic paraplegia 9A |
| BCAP31 (Xq28) | Hermansky-Pudlak syndrome 1 |
| BCOR (Xp11.4) | Hermansky-Pudlak syndrome 2 |
| BCS1L (2q35) | Hermansky-Pudlak syndrome 4 |
| BLOC1S3 (19q13.32) | Hermansky-Pudlak syndrome 5 |
| BLOC1S6 (15q21.1) | Hermansky-Pudlak syndrome 6 |
| BRCA2 (13q13.1) | Hermansky-Pudlak syndrome 7 |
| BRWD3 (Xq21.1) | Hermansky-Pudlak syndrome 8 |
| C19orf12 (19q12) | Hermansky-Pudlak syndrome 9 |
| CA2 (8q21.2) | Heterotaxy, visceral, 1, X-linked |
| CA8 (8q12.1) | Heyn-Sproul-Jackson syndrome |
| CACNA1A (19p13.13) | Hirschsprung disease, susceptibility to, 3 |
| CACNA1D (3p21.1) | Hogue-Janssens syndrome 1 |
| CACNA1E (1q25.3) | Holoprosencephaly 11 |
| CACNA1F (Xp11.23) | Holoprosencephaly 3 |
| CACNA1G (17q21.33) | Holoprosencephaly 4 |
| CACNA1H (16p13.3) | Holoprosencephaly 5 |
| CACNB2 (10p12.33-12.31) | Houge-Janssens syndrome 2 |
| CAMK2A (5q32) | Human HOXA1 syndromes |
| CAMK2B (7p13) | Hydrocephalus, nonsyndromic, autosomal recessive 2 |
| CAMK2G (10q22.2) | Hyperekplexia 2 |
| CAMTA1 (1p36.31-36.23) |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
| TARJETA11 (7p22.2) |
Hyperphosphatasia with intellectual disability syndrome 1
|
| CBS (21q22.3) |
Hyperphosphatasia with intellectual disability syndrome 2
|
| CC2D2A (4p15.32) |
Hyperphosphatasia with intellectual disability syndrome 3
|
| CCDC22 (Xp11.23) | Hypertrophic cardiomyopathy 18 |
| CCDC40 (17q25.3) |
Hypogonadotropic hypogonadism 5 with or without anosmia
|
| CCDC88C (14q32.11-32.12) | Hypokalemic periodic paralysis, type 2 |
| CDH11 (16q21) | Hypomyelinating leukodystrophy 10 |
| CDH15 (16q24.3) | Hypomyelinating leukodystrophy 3 |
| CDK5RAP2 (9q33.2) | Hypomyelinating leukodystrophy 4 |
| CDON (11q24.2) | Hypomyelinating leukodystrophy 6 |
| CENPF (1q41) | Hypomyelination and Congenital Cataract |
| CEP135 (4q12) |
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
|
| CEP152 (15q21.1) |
Hypotonia, ataxia, and delayed development syndrome
|
| CEP290 (12q21.32) |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
|
| CEP41 (7q32.2) |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
|
| CEP63 (3q22.2) |
IFAP syndrome 1, with or without BRESHECK syndrome
|
| CERT1 (5q13.3) | Ichthyosis prematurity syndrome |
| CHD1 (5q15-21.1) | Immunodeficiency 75 |
| CHD2 (15q26.1) | Immunodeficiency 95 |
| CHL1 (3p26.3) |
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
|
| CHMP1A (16q24.3) | Inborn glycerol kinase deficiency |
| CIB2 (15q25.1) |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
|
| CIT (12q24.23) | Infantile nephronophthisis |
| CLCN4 (Xp22.2) | Infantile neuroaxonal dystrophy |
| CLN8 (8p23.3) | Intellectual developmental disorder 59 |
| CLP1 (11q12.1) | Intellectual developmental disorder 60 with seizures |
| CLTC (17q23.1) | Intellectual developmental disorder 61 |
| CNGB3 (8q21.3) | Intellectual developmental disorder 62 |
| CNKSR2 (Xp22.12) |
Intellectual developmental disorder with autism and macrocephaly
|
| COASY (17q21.2) |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
|
| COL4A1 (13q34) |
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
|
| CPAP (13q12.12-12.13) |
Intellectual developmental disorder, autosomal dominant 64
|
| CPLANE1 (5p13.2) |
Intellectual developmental disorder, autosomal dominant 65
|
| CPT2 (1p32.3) |
Intellectual developmental disorder, autosomal dominant 67
|
| CRADD (12q22) |
Intellectual developmental disorder, autosomal recessive 76
|
| CRBN (3p26.2) | Intellectual disability, FRA12A type |
| CRIPT (2p21) | Intellectual disability, X-linked 1 |
| CRPPA (7p21.2) | Intellectual disability, X-linked 102 |
| CSPP1 (8q13.1-13.2) | Intellectual disability, X-linked 104 |
| CTC1 (17p13.1) | Intellectual disability, X-linked 19 |
| CTNNA3 (10q21.3) | Intellectual disability, X-linked 21 |
| CTNNB1 (3p22.1) | Intellectual disability, X-linked 30 |
| CUL4B (Xq24) | Intellectual disability, X-linked 41 |
| CUL7 (6p21.1) | Intellectual disability, X-linked 49 |
| CUX1 (7q22.1) | Intellectual disability, X-linked 58 |
| CUX2 (12q24.11-24.12) | Intellectual disability, X-linked 63 |
| CX3CR1 (3p22.2) | Intellectual disability, X-linked 9 |
| CYB5R3 (22q13.2) | Intellectual disability, X-linked 90 |
| CYP11B1 (8q24.3) | Intellectual disability, X-linked 93 |
| CYP27A1 (2q35) | Intellectual disability, X-linked 96 |
| DARS1 (2q21.3) | Intellectual disability, X-linked 97 |
| DARS2 (1q25.1) |
Intellectual disability, X-linked 99, syndromic, female-restricted
|
| DCAF17 (2q31.1) | Intellectual disability, X-linked syndromic, Turner type |
| DCX (Xq23) | Intellectual disability, X-linked, syndromic, 35 |
| DDC (7p12.2-12.1) | Intellectual disability, X-linked, syndromic, Bain type |
| DIP2B (12q13.12) | Intellectual disability, X-linked, syndromic, Houge type |
| DKC1 (Xq28) |
Intellectual disability, X-linked, with panhypopituitarism
|
| DLG3 (Xq13.1) |
Intellectual disability, anterior maxillary protrusion, and strabismus
|
| DLX3 (17q21.33) | Intellectual disability, autosomal dominant 1 |
| DMXL2 (15q21.2) | Intellectual disability, autosomal dominant 11 |
| DNM1 (9q34.11) | Intellectual disability, autosomal dominant 13 |
| DOCK8 (9p24.3) | Intellectual disability, autosomal dominant 14 |
| DPF2 (11q13.1) | Intellectual disability, autosomal dominant 20 |
| DPYD (1p21.3) | Intellectual disability, autosomal dominant 22 |
| DRD3 (3q13.31) | Intellectual disability, autosomal dominant 29 |
| DST (6p12.1) | Intellectual disability, autosomal dominant 3 |
| DTNBP1 (6p22.3) | Intellectual disability, autosomal dominant 30 |
| DVL3 (3q27.1) | Intellectual disability, autosomal dominant 33 |
| DYM (18q21.1) | Intellectual disability, autosomal dominant 34 |
| DYNC1H1 (14q32.31) | Intellectual disability, autosomal dominant 39 |
| EDC3 (15q24.1) | Intellectual disability, autosomal dominant 40 |
| EDN3 (20q13.32) | Intellectual disability, autosomal dominant 41 |
| EDNRB (13q22.3) | Intellectual disability, autosomal dominant 42 |
| EEF1A2 (20q13.33) | Intellectual disability, autosomal dominant 43 |
| EFTUD2 (17q21.31) | Intellectual disability, autosomal dominant 45 |
| EIF2B1 (12q24.31) | Intellectual disability, autosomal dominant 46 |
| EIF2B2 (14q24.3) | Intellectual disability, autosomal dominant 47 |
| EIF2B3 (1p34.1) | Intellectual disability, autosomal dominant 48 |
| EIF2B4 (2p23.3) | Intellectual disability, autosomal dominant 5 |
| EIF2B5 (3q27.1) | Intellectual disability, autosomal dominant 50 |
| EIF2S3 (Xp22.11) | Intellectual disability, autosomal dominant 51 |
| ELOVL4 (6q14.1) | Intellectual disability, autosomal dominant 52 |
| ELP2 (18q12.2) | Intellectual disability, autosomal dominant 53 |
| EMC10 (19q13.33) | Intellectual disability, autosomal dominant 54 |
| EMX2 (10q26.11) |
Intellectual disability, autosomal dominant 55, with seizures
|
| EPB41L1 (20q11.23) | Intellectual disability, autosomal dominant 56 |
| ETFB (19q13.41) | Intellectual disability, autosomal dominant 57 |
| EXOC6B (2p13.2) | Intellectual disability, autosomal dominant 58 |
| EXOSC3 (9p13.2) | Intellectual disability, autosomal recessive 1 |
| EXOSC9 (4q27) | Intellectual disability, autosomal recessive 12 |
| EXT1 (8q24.11) | Intellectual disability, autosomal recessive 13 |
| EZH2 (7q36.1) | Intellectual disability, autosomal recessive 14 |
| FAN1 (15q13.3) | Intellectual disability, autosomal recessive 18 |
| FANCB (Xp22.2) | Intellectual disability, autosomal recessive 2 |
| FBN1 (15q21.1) | Intellectual disability, autosomal recessive 27 |
| FBXO11 (2p16.3) | Intellectual disability, autosomal recessive 3 |
| FERRY3 (12p13.32) | Intellectual disability, autosomal recessive 34 |
| FGA (4q31.3) | Intellectual disability, autosomal recessive 42 |
| FGFR2 (10q26.13) | Intellectual disability, autosomal recessive 43 |
| FGFR3 (4p16.3) | Intellectual disability, autosomal recessive 44 |
| FH (1q43) | Intellectual disability, autosomal recessive 46 |
| FKRP (19q13.32) | Intellectual disability, autosomal recessive 47 |
| FKTN (9q31.2) | Intellectual disability, autosomal recessive 5 |
| FLNA (Xq28) | Intellectual disability, autosomal recessive 50 |
| FLVCR1 (1q32.3) | Intellectual disability, autosomal recessive 51 |
| FMN2 (1q43) | Intellectual disability, autosomal recessive 52 |
| FOXC1 (6p25.3) | Intellectual disability, autosomal recessive 53 |
| FOXL2 (3q22.3) | Intellectual disability, autosomal recessive 54 |
| FRMPD4 (Xp22.2) | Intellectual disability, autosomal recessive 56 |
| FTL (19q13.33) | Intellectual disability, autosomal recessive 57 |
| FTO (16q12.2) | Intellectual disability, autosomal recessive 58 |
| FTSJ1 (Xp11.23) | Intellectual disability, autosomal recessive 59 |
| G6PD (Xq28) | Intellectual disability, autosomal recessive 6 |
| GABBR2 (9q22.33) | Intellectual disability, autosomal recessive 60 |
| GABRA5 (15q12) | Intellectual disability, autosomal recessive 61 |
| GAD1 (2q31.1) | Intellectual disability, autosomal recessive 65 |
| GATAD2B (1q21.3) | Intellectual disability, autosomal recessive 66 |
| GCK (7p13) | Intellectual disability, autosomal recessive 7 |
| GDI1 (Xq28) |
Intellectual disability-epilepsy-extrapyramidal syndrome
|
| GDNF (5p13.2) |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
|
| GFAP (17q21.31) |
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
|
| GIGYF2 (2q37.1) |
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
|
| GJC2 (1q42.13) |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
|
| GK (Xp21.2) |
Intellectual disability-severe speech delay-mild dysmorphism syndrome
|
| GLI2 (2q14.2) | Intellectual disability-strabismus syndrome |
| GLRB (4q32.1) | Jackson-Weiss syndrome |
| GMPPA (2q35) | Jawad syndrome |
| GMPPB (3p21.31) | Johanson-Blizzard syndrome |
| GNAO1 (16q13) | Joubert syndrome 1 |
| GNAS (20q13.32) | Joubert syndrome 13 |
| GNB1 (1p36.33) | Joubert syndrome 14 |
| GPC3 (Xq26.2) | Joubert syndrome 15 |
| GPC4 (Xq26.2) | Joubert syndrome 16 |
| GPC6 (13q31.3-32.1) | Joubert syndrome 17 |
| GPHN (14q23.3-24.1) | Joubert syndrome 2 |
| GPT2 (16q11.2) | Joubert syndrome 21 |
| GPX1 (3p21.31) | Joubert syndrome 22 |
| GRIA1 (5q33.2) | Joubert syndrome 24 |
| GRIA3 (Xq25) | Joubert syndrome 27 |
| GRIA4 (11q22.3) | Joubert syndrome 28 |
| GRID2 (4q22.1-22.2) | Joubert syndrome 3 |
| GRIK2 (6q16.3) | Joubert syndrome 5 |
| GRIN1 (9q34.3) | Joubert syndrome 8 |
| GRIN2A (16p13.2) | Juvenile polyposis syndrome |
| HBB (11p15.4) | KBG syndrome |
| HCCS (Xp22.2) | Kabuki syndrome 1 |
| HCFC1 (Xq28) | Kabuki syndrome 2 |
| HDAC4 (2q37.2) | Kahrizi syndrome |
| HDAC8 (Xq13.1) | Karyomegalic interstitial nephritis |
| HECW2 (2q32.3) | Keipert syndrome |
| HEPACAM (11q24.2) | Kleefstra syndrome 1 |
| HERC2 (15q13.1) | Kleefstra syndrome 2 |
| HNMT (2q22.1) | Koolen-de Vries syndrome |
| HPS1 (10q24.2) | Kufor-Rakeb syndrome |
| HPS4 (22q12.1) | L-ferritin deficiency |
| HPS5 (11p15.1) | LEOPARD syndrome 3 |
| HPS6 (10q24.32) | Lamb-Shaffer syndrome |
| HSD11B1 (1q32.2) | Landau-Kleffner syndrome |
| HSD17B10 (Xp11.22) | Lathosterolosis |
| HSPD1 (2q33.1) | Left ventricular noncompaction 7 |
| HYCC1 (7p15.3) | Lesch-Nyhan syndrome |
| HYDIN (16q22.2) | Lethal polymalformative syndrome, Boissel type |
| IDS (Xq28) |
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
|
| IER3IP1 (18q21.1) | Levy-Hollister syndrome |
| IFIH1 (2q24.2) |
Limb-girdle muscular dystrophy due to POMK deficiency
|
| IGBP1 (Xq13.1) |
Linear skin defects with multiple congenital anomalies 1
|
| IGF1 (12q23.2) | Lissencephaly 6 with microcephaly |
| IGF1R (15q26.3) | Lissencephaly 8 |
| IMPA1 (8q21.13) | Lissencephaly 9 with complex brainstem malformation |
| INPP5E (9q34.3) | Lissencephaly due to LIS1 mutation |
| INVS (9q31.1) | Lissencephaly due to TUBA1A mutation |
| IRX5 (16q12.2) |
Lissencephaly type 1 due to doublecortin gene mutation
|
| ITGA7 (12q13.2) | Lung cancer |
| ITGB3 (17q21.32) |
Lung disease, immunodeficiency, and chromosome breakage syndrome;
|
| ITPR1 (3p26.1) | Luscan-Lumish syndrome |
| JAG1 (20p12.2) | Lymphatic malformation 3 |
| KANK1 (9p24.3) | Lysinuric protein intolerance |
| KAT6A (8p11.21) | MEDNIK syndrome |
| KAT6B (10q22.2) | MEGF10-related myopathy |
| KATNB1 (16q21) | MEHMO syndrome |
| KCNC1 (11p15.1) | MGAT2-congenital disorder of glycosylation |
| KCNC3 (19q13.33) |
Macrocephaly, acquired, with impaired intellectual development
|
| KCND3 (1p13.2) | Macrocephaly-developmental delay syndrome |
| KCNJ10 (1q23.2) |
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
|
| KCNK9 (8q24.3) | Malan overgrowth syndrome |
| KCNMA1 (10q22.3) | Malignant tumor of prostate |
| KCNQ2 (20q13.33) | Mandibulofacial dysostosis-microcephaly syndrome |
| KCNQ5 (6q13) | Marinesco-Sjögren syndrome |
| KDM4B (19p13.3) | Marshall-Smith syndrome |
| KDM6A (Xp11.3) | Martsolf syndrome 1 |
| KIF11 (10q23.33) | Matthew-Wood syndrome |
| KIF14 (1q32.1) | Maturity-onset diabetes of the young type 2 |
| KIF1A (2q37.3) | McCune-Albright syndrome |
| KIF5C (2q23.1-23.2) | Meckel syndrome, type 1 |
| KIF7 (15q26.1) | Meckel syndrome, type 10 |
| KIFBP (10q22.1) | Meckel syndrome, type 11 |
| KMT2D (12q13.12) | Meckel syndrome, type 4 |
| KNL1 (15q15.1) | Meckel syndrome, type 5 |
| KPTN (19q13.32) | Medulloblastoma |
| LAMA1 (18p11.31) |
Megalencephalic leukoencephalopathy with subcortical cysts 1
|
| LAMA2 (6q22.33) |
Megalencephalic leukoencephalopathy with subcortical cysts 2A
|
| LAMB1 (7q31.1) |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
|
| LAMP2 (Xq24) |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
|
| LARGE1 (22q12.3) | Meier-Gorlin syndrome 1 |
| LEP (7q32.1) | Menke-Hennekam syndrome 2 |
| LINS1 (15q26.3) | Methylcobalamin deficiency type cblG |
| LMAN2L (2q11.2) |
Methylmalonic acidemia with homocystinuria, type cblX
|
| LMX1B (9q33.3) |
Microcephalic osteodysplastic primordial dwarfism type II
|
| LRBA (4q31.3) |
Microcephalic primordial dwarfism due to RTTN deficiency
|
| LRP1 (12q13.3) |
Microcephalic primordial dwarfism due to ZNF335 deficiency
|
| LRP2 (2q31.1) | Microcephaly 1, primary, autosomal recessive |
| LZTR1 (22q11.21) | Microcephaly 14, primary, autosomal recessive |
| MACF1 (1p34.3) | Microcephaly 15, primary, autosomal recessive |
| MAGT1 (Xq21.1) | Microcephaly 16, primary, autosomal recessive |
| MAN1B1 (9q34.3) | Microcephaly 17, primary, autosomal recessive |
| MBTPS2 (Xp22.12) | Microcephaly 18, primary, autosomal dominant |
| MCCC2 (5q13.2) |
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
|
| MCM4 (8q11.21) | Microcephaly 20, primary, autosomal recessive |
| MCM6 (2q21.3) | Microcephaly 22, primary, autosomal recessive |
| MCPH1 (8p23.1) | Microcephaly 3, primary, autosomal recessive |
| MECR (1p35.3) | Microcephaly 4, primary, autosomal recessive |
| MED17 (11q21) | Microcephaly 5, primary, autosomal recessive |
| MED23 (6q23.2) | Microcephaly 6, primary, autosomal recessive |
| MEGF10 (5q23.2) | Microcephaly 7, primary, autosomal recessive |
| METTL23 (17q25.1) | Microcephaly 8, primary, autosomal recessive |
| MFRP (11q23.3) | Microcephaly and chorioretinopathy 1 |
| MFSD2A (1p34.2) | Microcephaly and chorioretinopathy 2 |
| MGAT2 (14q21.3) | Microcephaly and chorioretinopathy 3 |
| MIB1 (18q11.2) |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
|
| MITF (3p13) | Microcephaly, epilepsy, and diabetes syndrome 1 |
| MKKS (20p12.2) |
Microcephaly, short stature, and impaired glucose metabolism 1
|
| MKS1 (17q22) | Microcephaly-capillary malformation syndrome |
| MLC1 (22q13.33) |
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
|
| MPDZ (9p23) |
Microcephaly-thin corpus callosum-intellectual disability syndrome
|
| MSMO1 (4q32.3) | Microphthalmia, syndromic 1 |
| MSR1 (8p22) |
Microvascular complications of diabetes, susceptibility to, 5
|
| MTHFR (1p36.22) |
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
|
| MTM1 (Xq28) | Miller Dieker syndrome |
| MTOR (1p36.22) | Mitochondrial complex 1 deficiency, nuclear type 12 |
| MTR (1q43) | Mitochondrial complex II deficiency, nuclear type 1 |
| MTRFR (12q24.31) | Mitochondrial complex III deficiency nuclear type 1 |
| MYCN (2p24.3) | Mowat-Wilson syndrome |
| MYO1E (15q22.2) | Mucopolysaccharidosis, MPS-II |
| MYO5A (15q21.2) | Multiple acyl-CoA dehydrogenase deficiency |
| MYO9B (19p13.11) |
Multiple congenital anomalies-hypotonia-seizures syndrome 1
|
| NAA10 (Xq28) |
Multiple congenital anomalies-hypotonia-seizures syndrome 2
|
| NAGA (22q13.2) | Multiple sclerosis, susceptibility to |
| NALCN (13q32.3-33.1) | Muscle AMP deaminase deficiency |
| NCAPD3 (11q25) |
Muscular dystrophy, limb-girdle, autosomal recessive 23
|
| NDE1 (16p13.11) |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
|
| NDP (Xp11.3) |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
|
| NDST1 (5q33.1) |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
|
| NDUFA1 (Xq24) |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
|
| NECTIN1 (11q23.3) |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
|
| NEK10 (3p24.1) |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
|
| NF1 (17q11.2) |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
|
| NFIA (1p31.3) |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
|
| NFIB (9p23-22.3) | Myelodysplastic syndrome |
| NHEJ1 (2q35) | Myopathy, myofibrillar, 9, with early respiratory failure |
| NHS (Xp22.2-22.13) | Myopia 25, autosomal dominant |
| NIPA1 (15q11.2) | NDE1-related microhydranencephaly |
| NOTCH2 (1p12) | Nail-patella-like renal disease |
| NPHP1 (2q13) | Nance-Horan syndrome |
| NPHP3 (3q22.1) | Nanophthalmos 2 |
| NR2F1 (5q15) | Neonatal pseudo-hydrocephalic progeroid syndrome |
| NR3C2 (4q31.23) | Nephronophthisis 11 |
| NSDHL (Xq28) | Nephronophthisis 12 |
| NSMCE3 (15q13.1) | Nephronophthisis 14 |
| NSUN2 (5p15.31) | Neurodegeneration with brain iron accumulation 5 |
| NTRK1 (1q23.1) |
Neurodevelopmental disorder with central hypotonia and dysmorphic facies
|
| NUP133 (1q42.13) |
Neurodevelopmental disorder with dysmorphic facies and variable seizures
|
| NUS1 (6q22.1) |
Neurodevelopmental disorder with epilepsy and hemochromatosis
|
| OCLN (5q13.2) |
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
|
| ODAD4 (17q21.2) |
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
|
| OFD1 (Xp22.2) |
Neurodevelopmental disorder with hypotonia, seizures, and absent language
|
| ORC1 (1p32.3) |
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
|
| OTC (Xp11.4) |
Neurodevelopmental disorder with involuntary movements
|
| P4HA2 (5q31.1) |
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
|
| PAH (12q23.2) |
Neurodevelopmental disorder with or without autism or seizures
|
| PAK3 (Xq23) |
Neurodevelopmental disorder with or without early-onset generalized epilepsy
|
| PANK2 (20p13) |
Neurodevelopmental disorder with or without seizures and gait abnormalities
|
| PAX3 (2q36.1) |
Neurodevelopmental disorder with poor language and loss of hand skills
|
| PAX6 (11p13) |
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
|
| PBX1 (1q23.3) | Neurofibromatosis-Noonan syndrome |
| PCDH15 (10q21.1) | Neuronal ceroid lipofuscinosis 1 |
| PCNT (21q22.3) |
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
|
| PDCD1 (2q37.3) | Nicolaides-Baraitser syndrome |
| PDE6D (2q37.1) | Niemann-Pick disease, type B |
| PDHA1 (Xp22.12) | Non-syndromic X-linked intellectual disability |
| PER2 (2q37.3) | Nonpersistence of intestinal lactase |
| PEX1 (7q21.2) | Noonan syndrome 1 |
| PEX10 (1p36.32) | Noonan syndrome 10 |
| PEX11B (1q21.1) | Noonan syndrome 3 |
| PEX12 (17q12) |
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO
|
| PEX13 (2p15) | Obesity due to congenital leptin deficiency |
| PEX14 (1p36.22) | Occipital pachygyria and polymicrogyria |
| PEX16 (11p11.2) | Oculocerebrofacial syndrome, Kaufman type |
| PEX19 (1q23.2) | Oculocutaneous albinism type 1B |
| PEX2 (8q21.13) | Oculofaciocardiodental syndrome |
| PEX26 (22q11.21) | Ogden syndrome |
| PEX3 (6q24.2) | Ornithine carbamoyltransferase deficiency |
| PEX5 (12p13.31) | Orofacial-digital syndrome IV |
| PEX6 (6p21.1) | Orofaciodigital syndrome I |
| PEX7 (6q23.3) | Orofaciodigital syndrome type 6 |
| PGAP1 (2q33.1) | Osteopetrosis with renal tubular acidosis |
| PGAP2 (11p15.4) | Oto-palato-digital syndrome, type I |
| PGK1 (Xq21.1) |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
|
| PHF8 (Xp11.22) |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
|
| PHIP (6q14.1) | PYCR1-related de Barsy syndrome |
| PIGA (Xp22.2) |
Parkinson disease 11, autosomal dominant, susceptibility to
|
| PIGC (1q24.3) |
Periventricular heterotopia with microcephaly, autosomal recessive
|
| PIGG (4p16.3) | Peroxisome biogenesis disorder 10B |
| PIGL (17p11.2) | Peroxisome biogenesis disorder 11A (Zellweger) |
| PIGN (18q21.33) | Peroxisome biogenesis disorder 12A (Zellweger) |
| PIGO (9p13.3) | Peroxisome biogenesis disorder 13A (Zellweger) |
| PIGV (1p36.11) | Peroxisome biogenesis disorder 14B |
| PIK3R2 (19p13.11) | Peroxisome biogenesis disorder 2A (Zellweger) |
| PITX1 (5q31.1) | Peroxisome biogenesis disorder 3A (Zellweger) |
| PITX2 (4q25) | Peroxisome biogenesis disorder 5A (Zellweger) |
| PLA2G6 (22q13.1) | Peroxisome biogenesis disorder 6B |
| PLCB1 (20p12.3) | Peroxisome biogenesis disorder 7B |
| PLK4 (4q28.1) | Peroxisome biogenesis disorder 8B |
| PLN (6q22.31) | Pettigrew syndrome |
| PLP1 (Xq22.2) | Phenylketonuria |
| POLA1 (Xp22.11-21.3) |
Phosphoribosylpyrophosphate synthetase superactivity
|
| POLR1C (6p21.1) | Piebaldism |
| POLR1D (13q12.2) | Pierpont syndrome |
| POLR3A (10q22.3) | Pigmentary pallidal degeneration |
| POLR3B (12q23.3) | Pilarowski-Bjornsson syndrome |
| POMGNT2 (3p22.1) | Pitt-Hopkins syndrome |
| POMK (8p11.21) | Pitt-Hopkins-like syndrome 2 |
| POMT1 (9q34.13) | Pontocerebellar hypoplasia type 10 |
| POMT2 (14q24.3) | Pontocerebellar hypoplasia type 1A |
| PON1 (7q21.3) | Pontocerebellar hypoplasia type 1B |
| PORCN (Xp11.23) | Pontocerebellar hypoplasia type 2A |
| POT1 (7q31.33) | Pontocerebellar hypoplasia type 2B |
| PPM1D (17q23.2) | Pontocerebellar hypoplasia type 2C |
| PPOX (1q23.3) | Pontocerebellar hypoplasia type 2D |
| PPP2R1A (19q13.41) | Pontocerebellar hypoplasia type 2E |
| PPT1 (1p34.2) | Pontocerebellar hypoplasia type 4 |
| PRICKLE1 (12q12) | Pontocerebellar hypoplasia type 6 |
| PRKN (6q26) | Pontocerebellar hypoplasia type 7 |
| PRODH (22q11.21) | Pontocerebellar hypoplasia type 8 |
| PRPS1 (Xq22.3) | Pontocerebellar hypoplasia type 9 |
| PRSS12 (4q26) | Pontocerebellar hypoplasia, type 11 |
| PTCH1 (9q22.32) | Pontocerebellar hypoplasia, type 12 |
| PTPRC (1q31.3-32.1) | Pontocerebellar hypoplasia, type 1D |
| PTS (11q23.1) | Pontocerebellar hypoplasia, type 2F |
| PURA (5q31.3) |
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
|
| PUS3 (11q24.2) |
Posterior column ataxia-retinitis pigmentosa syndrome
|
| PXDN (2p25.3) | Premature ovarian failure 3 |
| PYCR1 (17q25.3) | Primary ciliary dyskinesia 15 |
| PYCR2 (1q42.12) | Primary ciliary dyskinesia 35 |
| QARS1 (3p21.31) | Primary ciliary dyskinesia 5 |
| QRICH1 (3p21.31) | Primary erythromelalgia |
| RAB18 (10p12.1) |
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
|
| RAB3GAP1 (2q21.3) | Primrose syndrome |
| RAB3GAP2 (1q41) |
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
|
| RAC1 (7p22.1) | Progressive myoclonic epilepsy type 7 |
| RARS2 (6q15) | Proline dehydrogenase deficiency |
| RBBP8 (18q11.2) | Pseudo-TORCH syndrome 1 |
| RBM10 (Xp11.3) |
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
|
| REST (4q12) | Pyridoxine-dependent epilepsy |
| RET (10q11.21) | Pyruvate dehydrogenase E1-alpha deficiency |
| RIMS1 (6q13) | RIDDLE syndrome |
| RNASEH2A (19p13.13) | Rafiq syndrome |
| RNASEH2B (13q14.3) | Renal tubular dysgenesis of genetic origin |
| RNASEH2C (11q13.1) | Renal-hepatic-pancreatic dysplasia 1 |
| RNF168 (3q29) | Renpenning syndrome |
| ROBO2 (3p12.3) | Retinitis pigmentosa 39 |
| ROGDI (16p13.3) | Retinitis pigmentosa 76 |
| ROR2 (9q22.31) | Rett syndrome, congenital variant |
| RPGRIP1L (16q12.2) | Rhabdoid tumor predisposition syndrome 1 |
| RTTN (18q22.2) | Rhabdoid tumor predisposition syndrome 2 |
| RUSC2 (9p13.3) | Rhizomelic chondrodysplasia punctata type 1 |
| RXYLT1 (12q14.2) | Ritscher-Schinzel syndrome 2 |
| SALL1 (16q12.1) |
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer’s cramp syndrome
|
| SAMHD1 (20q11.23) | Rothmund-Thomson syndrome, type 3 |
| SASH1 (6q24.3-25.1) | Rotor syndrome |
| SASS6 (1p21.2) |
Rubinstein-Taybi syndrome due to CREBBP mutations
|
| SBF1 (22q13.33) |
SIN3A-related intellectual disability syndrome due to a point mutation
|
| SC5D (11q23.3-24.1) | SLC35A2-congenital disorder of glycosylation |
| SCN4A (17q23.3) | Schaaf-Yang syndrome |
| SCN9A (2q24.3) | Schizencephaly |
| SCO2 (22q13.33) | Schizophrenia |
| SDCCAG8 (1q43-44) | Schuurs-Hoeijmakers syndrome |
| SDHA (5p15.33) | Seckel syndrome 1 |
| SEPSECS (4p15.2) | Seckel syndrome 5 |
| SET (9q34.11) | Seckel syndrome 6 |
| SF3B1 (2q33.1) | Seizures, benign familial infantile, 5 |
| SGCA (17q21.33) | Seizures, benign familial neonatal, 1 |
| SHH (7q36.3) | Seizures, benign familial neonatal, 2 |
| SHROOM4 (Xp11.22) | Selective pituitary resistance to thyroid hormone |
| SIL1 (5q31.2) | Senior-Loken syndrome 1 |
| SIX3 (2p21) | Senior-Loken syndrome 7 |
| SLC12A5 (20q13.12) | Severe X-linked myotubular myopathy |
| SLC1A1 (9p24.2) |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
|
| SLC25A12 (2q31.1) |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
|
| SLC25A13 (7q21.3) |
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
|
| SLC25A15 (13q14.11) |
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
|
| SLC25A19 (17q25.1) |
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
|
| SLC27A4 (9q34.11) |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
|
| SLC2A1 (1p34.2) | Severe myoclonic epilepsy in infancy |
| SLC35A2 (Xp11.23) | Sinoatrial node dysfunction and deafness |
| SLC35A3 (1p21.2) | Skraban-Deardorff syndrome |
| SLC4A4 (4q13.3) | Smith-Lemli-Opitz syndrome |
| SLC6A17 (1p13.3) | Smith-Magenis syndrome |
| SLC6A3 (5p15.33) | Smith-McCort dysplasia 1 |
| SLC6A8 (Xq28) | Snijders Blok-Campeau syndrome |
| SLC7A7 (14q11.2) | Sotos syndrome |
| SLCO1B3 (12p12.2) | Spermatogenic failure, Y-linked, 2 |
| SMARCA2 (9p24.3) | Spinocerebellar ataxia type 13 |
| SMARCA4 (19p13.2) | Spinocerebellar ataxia type 19/22 |
| SMARCB1 (22q11.23) | Spinocerebellar ataxia type 34 |
| SMARCE1 (17q21.2) | Spinocerebellar ataxia type 40 |
| SMC3 (10q25.2) | Spinocerebellar ataxia type 42 |
| SMPD1 (11p15.4) |
Spondyloepimetaphyseal dysplasia with joint laxity, type 3
|
| SMS (Xp22.11) | Stankiewicz-Isidor syndrome |
| SNAI2 (8q11.21) | Stromme syndrome |
| SNAP25 (20p12.2) | Succinate-semialdehyde dehydrogenase deficiency |
| SNAP29 (22q11.21) |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
|
| SNIP1 (1p34.3) | Susceptibility to HIV infection |
| SOBP (6q21) | Syndromic X-linked intellectual disability 14 |
| SOD1 (21q22.11) | Syndromic X-linked intellectual disability 94 |
| SOX10 (22q13.1) |
Syndromic X-linked intellectual disability Claes-Jensen type
|
| SOX11 (2p25.2) |
Syndromic X-linked intellectual disability Nascimento type
|
| SOX2 (3q26.33) |
Syndromic X-linked intellectual disability Raymond type
|
| SOX3 (Xq27.1) | Syndromic X-linked intellectual disability Siderius type |
| SRCAP (16p11.2) | Syndromic X-linked intellectual disability Snyder type |
| SRD5A3 (4q12) | Lupus eritematoso sistémico |
| ST3GAL3 (1p34.1) | Síndrome de TARP |
| STAG1 (3q22.3) |
Síndrome de sobrecrecimiento de Tatton-Brown-Rahman
|
| STAMBP (2p13.1) | Síndrome de Temtamy |
| STIL (1p33) | Tetralogía de Fallot |
| STRA6 (15q24.1) | Trombofilia por defecto de la trombina |
| SYN1 (Xp11.3-11.23) | Síndrome de Timothy |
| SYN2 (3p25.2) | Síndrome de Townes-Brocks 1 |
| SYNE1 (6q25.2) | Síndrome de Treacher Collins 1 |
| SYNJ1 (21q22.11) | Síndrome de Treacher Collins 2 |
| SYP (Xp11.23) | Síndrome de Treacher Collins 3 |
| TAF13 (1p13.3) | Síndrome tricodentoóseo |
| TAF2 (8q24.12) | Esclerosis tuberosa 1 |
| TAF6 (7q22.1) | Esclerosis tuberosa 2 |
| TBC1D23 (3q12.1-12.2) | Síndrome de predisposición tumoral 3 |
| TBC1D24 (16p13.3) | Ofriogénesis del uleritema |
| TBCE (1q42.3) | Síndrome cubitomamario |
| TBX1 (22q11.21) | Deficiencia de urocanato hidratasa |
| TBX3 (12q24.21) | Síndrome de Usher tipo 1F |
| TCOF1 (5q32-33.1) | Enfermedad de la sustancia blanca que desaparece |
| TCTN1 (12q24.11) | Porfiria variegada |
| TCTN2 (12q24.31) | Síndrome de Ververi-Brady |
| TCTN3 (10q24.1) | Reflujo vesicoureteral 2 |
| TECR (19p13.12) |
Raquitismo tipo II dependiente de vitamina D con alopecia
|
| TECTA (11q23.3) | Síndrome de Waardenburg tipo 1 |
| TET2 (4q24) | Síndrome de Waardenburg tipo 2E |
| TFAP2A (6p24.3) | Microsíndrome de Warburg 1 |
| TGIF1 (18p11.31) | Microsíndrome de Warburg 3 |
| THRA (17q21.1) | Microsíndrome de Warburg 4 |
| THRB (3p24.2) | Síndrome de rotura de Varsovia |
| TIMM8A (Xq22.1) | Síndrome del tejedor |
| TINF2 (14q12) | Síndrome de Wieacker-Wolff, restringido a mujeres |
| TMCO1 (1q24.1) | Tumor de Wilms 1 |
| TMEM138 (11q12.2) | Síndrome de Woodhouse-Sakati |
| TMEM216 (11q12.2) | Síndrome de la piel arrugada |
| TMEM231 (16q23.1) | Síndrome de Opitz G/BBB ligado al cromosoma X |
| TMEM237 (2q33.1) |
Distrofia de conos y bastones ligada al cromosoma X 3
|
| TMEM67 (8q22.1) |
Atrofia muscular espinal distal ligada al cromosoma X tipo 3
|
| TMLHE (Xq28) | Síndrome de hidrocefalia ligado al cromosoma X |
| TMTC3 (12q21.32) |
Inmunodeficiencia ligada al cromosoma X con defecto de magnesio, infección por el virus de Epstein-Barr y neoplasia
|
| TNIK (3q26.2-26.31) |
Discapacidad intelectual ligada al cromosoma X tipo Cabezas
|
| TOE1 (1p34.1) |
Discapacidad intelectual ligada al cromosoma X, tipo Cantagrel
|
| TPO (2p25.3) |
Discapacidad intelectual ligada al cromosoma X, tipo Stocco dos Santos
|
| TRAPPC9 (8q24.3) |
Síndrome de discapacidad intelectual ligada al cromosoma X-hipoplasia cerebelosa
|
| TREX1 (3p21.31) |
Trastorno pigmentario reticulado ligado al cromosoma X
|
| TRIO (5p15.2) |
Síndrome de discapacidad intelectual, hipotonía, espasticidad y trastorno del sueño
|
| TRMT10A (4q23) | Patrón anormal de respiración |
| TRPC6 (11q22.1) | Patrón de habla anormal |
| TRPM1 (15q13.3) | Anormalidad del sistema nervioso autónomo |
| TRRAP (7q22.1) | Anormalidad del ojo |
| TSEN15 (1q25.3) | Acrocianosis |
| TSEN2 (3p25.2) | Síndrome de Allan-Herndon-Dudley |
| TSEN34 (19q13.42) |
Síndrome de discapacidad intelectual ligado al cromosoma X y alfa talasemia
|
| TSEN54 (17q25.1) |
Anemia hemolítica no esferocítica por deficiencia de G6PD
|
| TSPAN7 (Xp11.4) | Síndrome de Angelman |
| TTC21B (2q24.3) | Ansiedad |
| TTI2 (8p12) |
Síndrome de Asperger, ligado al cromosoma X, susceptibilidad a, 1
|
| TTN (2q31.2) |
Síndrome de Asperger, ligado al cromosoma X, susceptibilidad a, 2
|
| TUBA1A (12q13.12) | Autismo |
| TUBA8 (22q11.21) | trastorno del espectro autista |
| TUBB2B (6p25.2) |
Trastorno del espectro autista debido a la deficiencia de AUTS2
|
| TUBB3 (16q24.3) | Autismo, susceptibilidad a, 15 |
| TUBB4A (19p13.3) | Autismo, susceptibilidad a, 16 |
| TUBGCP4 (15q15.3) | Autismo, susceptibilidad a, 17 |
| TUBGCP6 (22q13.33) | Autismo, susceptibilidad a, ligado al cromosoma X 1 |
| TUSC3 (8p22) | Autismo, susceptibilidad a, ligado al cromosoma X 2 |
| TYR (11q14.3) | Autismo, susceptibilidad a, ligado al cromosoma X 3 |
| UBE2A (Xq24) | Autismo, susceptibilidad a, ligado al cromosoma X 5 |
| UBE3B (12q24.11) | Síndrome de Bannayan-Riley-Ruvalcaba |
| UBR1 (15q15.2) | Distrofia muscular de Becker |
| UNC80 (2q34) | Síndrome de Beckwith-Wiedemann |
| UROC1 (3q21.3) |
Blefarofimosis – síndrome de discapacidad intelectual, tipo MKB
|
| USH2A (1q41) | Síndrome de Borjeson-Forssman-Lehmann |
| USP9X (Xp11.4) | Braquidactilia |
| USP9Y (Yq11.221) | Síndrome de Brugada 3 |
| VDR (12q13.11) | Bulimia nerviosa, susceptibilidad a, 1 |
| VLDLR (9p24.2) | Síndrome de CHARGE |
| VPS53 (17p13.3) | carcinoma de colon |
| VRK1 (14q32.2) | Arritmia cardíaca |
| WASHC4 (12q23.3) | Síndrome cardiofaciocutáneo |
| WDR26 (1q42.11-42.12) | Catarata 40 |
| WDR45 (Xp11.23) | Deficiencia del transporte cerebral de folato |
| WDR62 (19q13.12) | Apraxia del habla infantil |
| WDR81 (17p13.3) | Síndrome de Christianson |
| WNT1 (12q13.12) | Síndrome de deleción del cromosoma 2p16.3 |
| WNT5A (3p14.3) | Síndrome de deleción del cromosoma 2q32-q33 |
| WWOX (16q23.1-23.2) | Síndrome de Coffin-Lowry |
| YWHAE (17p13.3) | deterioro cognitivo |
| YY1 (14q32.2) | Síndrome de Cohen |
| ZBTB18 (1q44) | Hipoventilación central congénita |
| ZBTB24 (6q21) | Síndrome de hipertrofia muscular cerebral congénita |
| ZC3H14 (14q31.3) | Síndrome de Cornelia de Lange 1 |
| ZC4H2 (Xq11.2) |
Síndrome de agenesia del cuerpo calloso-genitales anormales
|
| ZDHHC9 (Xq26.1) | Síndrome de displasia cortical-epilepsia focal |
| ZFYVE26 (14q24.1) | Síndrome de Cowden |
| ZIC1 (3q24) | Retraso en el desarrollo del habla y del lenguaje |
| ZIC2 (13q32.3) | Enfermedad de las abolladuras tipo 2 |
| ZIC3 (Xq26.3) | Encefalopatía epiléptica y del desarrollo, 1 |
| ZNF335 (20q13.12) | Encefalopatía epiléptica y del desarrollo, 11 |
| ZNF41 (Xp11.3) | Encefalopatía epiléptica y del desarrollo, 2 |
| ZNF423 (16q12.1) | Encefalopatía epiléptica y del desarrollo, 9 |
| ZNF699 (19p13.2) | regresión del desarrollo |
| ZNF711 (Xq21.1) | Miocardiopatía dilatada 3B |
| ZNF81 (Xp11.23) | distrofia muscular de Duchenne |
| Anormalidad del EEG | |
| carcinoma endometrial | |
| Epilepsia, ausencia infantil, susceptibilidad a, 5 | |
| Síndrome de FG 1 | |
| Meningioma familiar | |
| Cabello fino | |
| Síndrome del cromosoma X frágil | |
|
Síndrome de temblor/ataxia asociado al cromosoma X frágil
|
|
| Trastorno de la marcha | |
|
Epilepsia generalizada con convulsiones febriles más tipo 2
|
|
| Susceptibilidad al glioma 2 | |
| Hemiplejia/hemiparesia | |
| carcinoma hepatocelular | |
| Enfermedad hereditaria | |
| Paraplejía espástica hereditaria 4 | |
| Síndromes humanos HOXA1 | |
| Hipertonía | |
|
Hipogonadismo hipogonadotrópico 5 con o sin anosmia
|
|
| Hipotonía | |
| Incoordinación | |
|
Trastorno del desarrollo intelectual con autismo y macrocefalia
|
|
| Discapacidad intelectual ligada al cromosoma X 19 | |
| Discapacidad intelectual ligada al cromosoma X 21 | |
| Discapacidad intelectual ligada al cromosoma X 72 | |
|
Discapacidad intelectual, sindrómica ligada al cromosoma X, tipo Turner
|
|
|
Discapacidad intelectual, ligada al cromosoma X, con o sin convulsiones, relacionada con el síndrome de Down.
|
|
| Discapacidad intelectual autosómica dominante 1 | |
| Discapacidad intelectual autosómica dominante 20 | |
| Discapacidad intelectual autosómica dominante 4 | |
| Discapacidad intelectual autosómica dominante 5 | |
| Discapacidad intelectual autosómica dominante 6 | |
|
Síndrome de discapacidad intelectual-facies hipotónica, ligado al cromosoma X, 1
|
|
|
Síndrome de discapacidad intelectual, retraso grave del habla y dismorfia leve
|
|
| Displasia cortical focal aislada tipo II | |
| Microcefalia aislada | |
| leucemia mielomonocítica juvenil | |
| Síndrome de KBG | |
| Síndrome de Kleefstra 1 | |
| Síndrome LEOPARD 1 | |
| Síndrome LEOPARD 3 | |
| Síndrome de Lesch-Nyhan | |
| Lisencefalia debida a la mutación LIS1 | |
| Síndrome de Lowe | |
| Adenocarcinoma de pulmón | |
| Linfangiomiomatosis | |
| Síndrome de MASA | |
| Síndrome de macrocefalia-autismo | |
| Tumor maligno de próstata | |
| Melanoma | |
| Melanoma maligno cutáneo, susceptibilidad a, 1 | |
| Metacondromatosis | |
| Microcefalia, convulsiones y retraso del desarrollo. | |
| Migraña hemipléjica familiar, 3 | |
| Síndrome de Mowat-Wilson | |
| Anomalías congénitas múltiples | |
| Síndrome de Nance-Horan | |
| carcinoma de pulmón de células no pequeñas | |
| Síndrome de Noonan 1 | |
| Síndrome de Noonan 7 | |
| Síndrome de Norman-Roberts | |
| Obesidad | |
| Trastorno obsesivo compulsivo | |
| Paquigiria y polimicrogiria occipital | |
| Carcinoma papilar de células renales tipo 1 | |
|
Deficiencia parcial de hipoxantina-guanina fosforribosiltransferasa
|
|
| Síndrome de Partington | |
| Síndrome de Pettigrew | |
| Síndrome de Phelan-McDermid | |
| Síndrome de Pitt-Hopkins | |
| Síndrome tipo Pitt-Hopkins 2 | |
| Síndrome de Prader-Willi | |
| Insuficiencia ovárica prematura 1 | |
| Densidad mineral ósea reducida | |
| Síndrome de Renpenning | |
| síndrome de Rett | |
| Síndrome de Rett, variante congénita | |
| Síndrome de Rubinstein-Taybi | |
| Esquizofrenia 15 | |
| Escoliosis | |
| Escoliosis aislada, susceptibilidad a, 3 | |
| Convulsión | |
| Convulsiones infantiles benignas familiares, 3 | |
| Epilepsia mioclónica grave en la infancia | |
| Encefalopatía neonatal grave con microcefalia | |
| Dedo del pie corto | |
| Anormalidad del sueño | |
| Síndrome de Smith-Lemli-Opitz | |
| Síndrome de Smith-Magenis | |
| Síndrome de Sotos | |
| Carcinoma de células escamosas de cabeza y cuello | |
| Trastorno del movimiento estereotipado | |
| Susceptibilidad a la bulimia nerviosa | |
|
Discapacidad intelectual sindrómica ligada al cromosoma X tipo Claes-Jensen
|
|
|
Discapacidad intelectual sindrómica ligada al cromosoma X tipo Lubs
|
|
|
Discapacidad intelectual sindrómica ligada al cromosoma X tipo Najm
|
|
| Cáncer de tiroides no medular, 2 | |
| VACTERL con hidrocefalia | |
| Fibrilación ventricular paroxística familiar, 2 | |
| Pérdida de peso | |
|
Disgenesia complicada del cuerpo calloso ligada al cromosoma X
|
|
|
Discapacidad intelectual ligada al cromosoma X con hábito marfanoide
|
|
|
Síndrome de discapacidad intelectual, psicosis y macroorquidismo ligado al cromosoma X
|
|
|
Lisencefalia ligada al cromosoma X con genitales anormales
|
|
|
Síndrome de malformaciones del desarrollo, sordera y distonía
|
|
| leucemia mieloide aguda | |
| Deficiencia de arginina:glicina amidinotransferasa | |
| Atrofia bulbosa hereditaria | |
| Autismo, susceptibilidad a, 5 | |
| Autismo, susceptibilidad a, ligado al cromosoma X 4 | |
| Síndrome linfoproliferativo autoinmune tipo 4 | |
|
Distrofia muscular de cinturas autosómica recesiva tipo 2O
|
|
| Síndrome de Baraitser-Winter 1 | |
|
Deficiencia de la quinasa deshidrogenasa de cetoácido de cadena ramificada
|
|
| Síndrome de Brunner | |
| carcinoma de páncreas | |
|
Anomalías cardíacas – retraso del desarrollo – síndrome de dismorfia facial
|
|
| Arritmia cardíaca relacionada con la anquirina B | |
|
Malformación cardíaca, labio hendido/paladar hendido, microcefalia y anomalías digitales
|
|
|
Anomalías cardíacas, faciales y digitales con retraso del desarrollo.
|
|
| Síndrome cardiofaciocutáneo 1 | |
| Síndrome cardiofaciocutáneo 2 | |
| Malformación arteriovenosa cerebral | |
| Síndrome de Clark-Baraitser | |
| Síndrome de Coffin-Siris 1 | |
| Síndrome de Coffin-Siris 8 | |
| Deterioro cognitivo con o sin ataxia cerebelosa | |
| cáncer colorrectal | |
| Distrofia corneal endotelial de Fuchs, 3 | |
| Síndrome de Cornelia de Lange 4 | |
| Síndrome de Costello | |
| Síndrome de Cowden 1 | |
|
Síndrome de discapacidad intelectual relacionado con DYRK1A
|
|
|
Síndrome de DeSanto-Shinawi debido a la mutación puntual WAC
|
|
| Deficiencia de guanidinoacetato metiltransferasa | |
| Encefalopatía epiléptica y del desarrollo 94 | |
| Encefalopatía epiléptica y del desarrollo, 13 | |
| Encefalopatía epiléptica y del desarrollo, 24 | |
| Encefalopatía epiléptica y del desarrollo, 26 | |
| Encefalopatía epiléptica y del desarrollo, 27 | |
| Encefalopatía epiléptica y del desarrollo, 4 | |
| Encefalopatía epiléptica y del desarrollo, 43 | |
| Encefalopatía epiléptica y del desarrollo, 54 | |
| Encefalopatía epiléptica y del desarrollo, 8 | |
|
Retraso del desarrollo con deterioro intelectual variable y anomalías del comportamiento.
|
|
| Síndrome de Dias-Logan | |
| Síndrome de Diets-Jongman | |
| Miocardiopatía dilatada 1NN | |
|
Síndrome de parkinsonismo-discapacidad intelectual de inicio temprano
|
|
| Nevo epidérmico | |
| Epilepsia con convulsiones atónicas mioclónicas | |
| Ataxia episódica, tipo 9 | |
| Vitreorretinopatía exudativa 2, ligada al cromosoma X | |
| Síndrome de FG 4 | |
| Cáncer de mama familiar | |
| Epilepsia familiar del lóbulo temporal 7 | |
| Síndrome renotubular de Fanconi 1 | |
| Síndrome de Fraser 3 | |
|
Epilepsia generalizada con convulsiones febriles más, tipo 10
|
|
| Poliposis juvenil generalizada/poliposis juvenil coli | |
| Adenocarcinoma gástrico difuso hereditario | |
| Síndrome de Heyn-Sproul-Jackson | |
| Síndrome de Hogue-Janssens 1 | |
| Síndrome de hipotonía, ataxia y retraso del desarrollo | |
|
Hipotonía infantil con retraso psicomotor y facies característica 3
|
|
| Trastorno del desarrollo intelectual 61 | |
| Trastorno del desarrollo intelectual 62 | |
|
Intellectual developmental disorder with autistic features and language delay, with or without seizures
|
|
|
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
|
|
|
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
|
|
|
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
|
|
| Intellectual disability, X-linked 72 | |
|
Intellectual disability, X-linked, with or without seizures, arx-related
|
|
| Intellectual disability, autosomal dominant 24 | |
| Intellectual disability, autosomal dominant 6 | |
| Isolated focal cortical dysplasia type II | |
| Juvenile myelomonocytic leukemia | |
|
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
|
|
| LEOPARD syndrome 1 | |
| LEOPARD syndrome 2 | |
| Large congenital melanocytic nevus | |
| Linear nevus sebaceous syndrome | |
| Long qt syndrome 8 | |
| Lung carcinoma | |
| Lymphangiomyomatosis | |
| Macrocephaly-autism syndrome | |
| Malignant tumor of urinary bladder | |
| Menke-Hennekam syndrome 1 | |
| Metachondromatosis | |
|
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
|
|
| Migraine, familial hemiplegic, 3 | |
| Mucopolysaccharidosis, MPS-III-A | |
| Mungan syndrome | |
| Muscle eye brain disease | |
|
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
|
|
| Myhre syndrome | |
| Myoclonus, familial, 2 | |
|
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
|
|
|
Trastorno del neurodesarrollo con epilepsia, cataratas, dificultades de alimentación y retraso en la mielinización cerebral.
|
|
|
Trastorno del desarrollo neurológico con o sin anomalías del cerebro, los ojos o el corazón.
|
|
|
Trastorno del desarrollo neurológico con regresión, movimientos anormales, pérdida del habla y convulsiones.
|
|
| Síndrome de Noonan 3 | |
| Síndrome de Noonan 5 | |
|
Trastorno similar al síndrome de Noonan con pérdida de cabello anágeno 2
|
|
| Síndrome de O’Donnell-Luria-Rodan | |
| Síndrome de Pierpont | |
| Síndrome de Primrose | |
| Pseudohipoaldosteronismo tipo 2E | |
| Retinosis pigmentaria 76 | |
|
Síndrome de Rubinstein-Taybi debido a mutaciones de CREBBP
|
|
|
Síndrome de Rubinstein-Taybi debido a haploinsuficiencia EP300
|
|
|
Síndrome de discapacidad intelectual relacionado con SIN3A debido a una mutación puntual
|
|
| Síndrome de Schaaf-Yang | |
| Síndrome de Schinzel-Giedion | |
| Esquizofrenia 9 | |
| Síndrome de Schuurs-Hoeijmakers | |
| Convulsiones benignas familiares infantiles, 5 | |
| Convulsiones neonatales benignas familiares, 2 | |
|
Dificultades graves de alimentación, retraso del crecimiento y microcefalia debido al síndrome de deficiencia de ASXL3
|
|
| Síndrome de Snijders Blok-Campeau | |
| Síndrome de Stankiewicz-Isidor | |
|
Deficiencia de succinato-semialdehído deshidrogenasa
|
|
|
Discapacidad intelectual sindrómica ligada al cromosoma X 14
|
|
| Síndrome de Toriello-Lacassie-Droste | |
| Transposición de las grandes arterias, dextro-asas | |
| Síndrome de Weiss-Kruszka | |
| Síndrome de Wiedemann-Steiner | |
| Síndrome ZTTK |
Panel Neuropatía
Estudio Neuropatía
Panel dirigido a 145 genes asociados al neuromuscular, se analizan 209 condiciones.
$17,100 MN
Panel de Neuropatía
Tabla de genes y condiciones
| GENES | CONDICIONES |
| AARS1 (16q22.1) | Enfermedad de Charcot-Marie-Tooth tipo axonal 2N |
| ABCA1 (9q31.1) |
Síndrome de insuficiencia hepática infantil aguda, ataxia cerebelosa y neuropatía sensitivomotora periférica
|
| ABHD12 (20p11.21) | Porfiria intermitente aguda |
| AGTPBP1 (9q21.33) | Agenesia del cuerpo calloso con neuropatía periférica |
| AIFM1 (Xq26.1) | Síndrome de Alagille debido a una mutación puntual JAG1 |
| APOA1 (11q23.3) | Deficiencia de alfa-N-acetilgalactosaminidasa tipo 1 |
| APTX (9p21.1) | Deficiencia de alfa-N-acetilgalactosaminidasa tipo 2 |
| ARHGEF10 (8p23.3) | Microcefalia letal Amish |
| ARNT2 (15q25.1) | Amiloidosis hereditaria sistémica 1 |
| ARSA (22q13.33) | Esclerosis lateral amiotrófica tipo 1 |
| ASAH1 (8pág. 22) | Esclerosis lateral amiotrófica tipo 16 |
| ATL1 (14q22.1) | Esclerosis lateral amiotrófica tipo 5 |
| ATL3 (11q13.1) | Neuralgia amiotrófica |
| ATP1A1 (1p13.1) | Ataxia – apraxia oculomotora tipo 4 |
| ATP7A (Xq21.1) | Ataxia de inicio temprano con apraxia oculomotora e hipoalbuminemia |
| ATP7B (13q14.3) | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2W |
| BAG3 (10q26.11) |
Atrofia muscular espinal proximal autosómica dominante de inicio en la infancia con contracturas
|
| BICD2 (9q22.31) | Miopatía mitocondrial autosómica dominante con intolerancia al ejercicio |
| BSCL2 (11q12.3) | Velocidad de conducción nerviosa lenta autosómica dominante |
| CADM3 (1q23.2) | Neuropatía axonal autosómica recesiva con neuromiotonía |
| CCT5 (5p15.2) | Atrofia muscular espinal distal autosómica recesiva 2 |
| CD59 (11p13) | Síndrome de Brown-Vialetto-van Laere 1 |
| CHCHD10 (22q11.23) | Síndrome de Brown-Vialetto-van Laere 2 |
| COA7 (1p32.3) |
Síndrome de cataratas, deficiencia de la hormona del crecimiento, neuropatía sensorial, pérdida auditiva neurosensorial y displasia esquelética.
|
| COX6A1 (12q24.31) | Insensibilidad congénita al dolor asociada a canalopatía, autosómica recesiva |
| CTDP1 (18q23) | Enfermedad de Charcot-Marie-Tooth, axonal, tipo 2GG |
| CYP27A1 (2q35) | Enfermedad de Charcot-Marie-Tooth dominante ligada al cromosoma X 1 |
| DCAF8 (1q23.2) | Enfermedad de Charcot-Marie-Tooth dominante ligada al cromosoma X 6 |
| DCTN1 (2p13.1) | Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X recesiva 4 |
| DHTKD1 (10p14) | Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X recesiva 5 |
| DNAJB2 (2q35) | Enfermedad de Charcot-Marie-Tooth tipo axonal 2C |
| DNAJC3 (13q32.1) | Enfermedad de Charcot-Marie-Tooth tipo axonal 2CC |
| DNM2 (19p13.2) | Enfermedad de Charcot-Marie-Tooth tipo axonal 2F |
| DNMT1 (19p13.2) | Enfermedad de Charcot-Marie-Tooth tipo axonal 2K |
| DRP2 (Xq22.1) | Enfermedad de Charcot-Marie-Tooth tipo axonal 2L |
| Horario de verano (6p12.1) | Enfermedad de Charcot-Marie-Tooth tipo axonal 2O |
| DYNC1H1 (14q32.31) | Enfermedad de Charcot-Marie-Tooth tipo axonal 2P |
| EGR2 (10q21.3) | Enfermedad de Charcot-Marie-Tooth tipo axonal 2Q |
| ELP1 (9q31.3) | Enfermedad de Charcot-Marie-Tooth tipo axonal 2S |
| EMILIN1 (2p23.3) | Enfermedad de Charcot-Marie-Tooth tipo axonal 2T |
| FBLN5 (14q32.12) | Enfermedad de Charcot-Marie-Tooth axonal tipo 2U |
| FBXO38 (5q32) | Enfermedad de Charcot-Marie-Tooth tipo axonal 2X |
| Grupo de discusión 4 (12 págs. 11, 21) | Enfermedad de Charcot-Marie-Tooth tipo axonal 2Z |
| FIG4 (6q21) | Enfermedad de Charcot-Marie-Tooth dominante intermedia B |
| GAN (16q23.2) | Enfermedad de Charcot-Marie-Tooth dominante intermedia C |
| GARS1 (7p14.3) | Enfermedad de Charcot-Marie-Tooth dominante intermedia D |
| GBF1 (10q24.32) | Enfermedad de Charcot-Marie-Tooth dominante intermedia E |
| GDAP1 (8q21.11) | Enfermedad de Charcot-Marie-Tooth dominante intermedia F |
| GJB1 (Xq13.1) | Enfermedad de Charcot-Marie-Tooth recesiva intermedia A |
| GM2A (5q33.1) | Enfermedad de Charcot-Marie-Tooth recesiva intermedia B |
| GNB4 (3q26.33) | Enfermedad de Charcot-Marie-Tooth recesiva intermedia C |
| GNE (9p13.3) | Enfermedad de Charcot-Marie-Tooth recesiva intermedia D |
| GSN (9q33.2) | Enfermedad de Charcot-Marie-Tooth tipo 1B |
| HADHB (2p23.3) | Enfermedad de Charcot-Marie-Tooth tipo 1C |
| HARS1 (5q31.3) | Enfermedad de Charcot-Marie-Tooth tipo 1D |
| HEXA (15q23) | Enfermedad de Charcot-Marie-Tooth tipo 1E |
| HEXB (5q13.3) | Enfermedad de Charcot-Marie-Tooth tipo 1F |
| SUGERENCIA1 (5q23.3) | Enfermedad de Charcot-Marie-Tooth tipo 2A1 |
| HK1 (10q22.1) | Enfermedad de Charcot-Marie-Tooth tipo 2A2 |
| HMBS (11q23.3) | Enfermedad de Charcot-Marie-Tooth tipo 2B |
| HSPB1 (7q11.23) | Enfermedad de Charcot-Marie-Tooth tipo 2B1 |
| HSPB3 (5q11.2) | Enfermedad de Charcot-Marie-Tooth tipo 2B2 |
| HSPB8 (12q24.23) | Enfermedad de Charcot-Marie-Tooth tipo 2D |
| IARS2 (1q41) | Enfermedad de Charcot-Marie-Tooth tipo 2E |
| IGHMBP2 (11q13.3) | Enfermedad de Charcot-Marie-Tooth tipo 2I |
| INF2 (14q32.33) | Enfermedad de Charcot-Marie-Tooth tipo 2J |
| ITPR3 (6p21.31) | Enfermedad de Charcot-Marie-Tooth tipo 2R |
| JAG1 (20p12.2) | Enfermedad de Charcot-Marie-Tooth tipo 2Y |
| KARS1 (16q23.1) | Enfermedad de Charcot-Marie-Tooth tipo 4A |
| KIF1A (2q37.3) | Enfermedad de Charcot-Marie-Tooth tipo 4B1 |
| KIF1B (1p36.22) | Enfermedad de Charcot-Marie-Tooth tipo 4B2 |
| KIF5A (12q13.3) | Enfermedad de Charcot-Marie-Tooth tipo 4B3 |
| LITAF (16p13.13) | Enfermedad de Charcot-Marie-Tooth tipo 4C |
| LMNA (1q22) | Enfermedad de Charcot-Marie-Tooth tipo 4D |
| LRSAM1 (9q33.3-34.11) | Enfermedad de Charcot-Marie-Tooth tipo 4E |
| MARS1 (12q13.3) | Enfermedad de Charcot-Marie-Tooth tipo 4F |
| MCM3AP (21q22.3) | Enfermedad de Charcot-Marie-Tooth tipo 4G |
| MFN2 (1p36.22) | Enfermedad de Charcot-Marie-Tooth tipo 4H |
| MICU1 (10q22.1) | Enfermedad de Charcot-Marie-Tooth tipo 4J |
| MME (3q25.2) | Enfermedad de Charcot-Marie-Tooth tipo 4K |
| MORC2 (22q12.2) | Enfermedad de Charcot-Marie-Tooth, axonal, tipo 2HH |
| MPV17 (2p23.3) | Enfermedad de Charcot-Marie-Tooth, axonal, tipo 2EE |
| MPZ (1q23.3) | Enfermedad de Charcot-Marie-Tooth, axonal, tipo 2FF |
| MTMR2 (11q21) |
Enfermedad de Charcot-Marie-Tooth, axonal, con paresia de las cuerdas vocales, autosómica recesiva
|
| NAGA (22q13.2) | Enfermedad de Charcot-Marie-Tooth, desmielinizante, IIA 1I |
| NDRG1 (8q24.22) | Charcot-Marie-Tooth disease, demyelinating, type 1G |
| NEFH (22q12.2) | Charcot-Marie-Tooth disease, demyelinating, type 1J |
| NEFL (8p21.2) | Charcot-Marie-Tooth disease, type IA |
| Factor de crecimiento nervioso (1p13.2) | Charcot-marie-tooth disease, axonal, type 2DD |
| NTRK1 (1q23.1) | Cholestanol storage disease |
| PDK3 (Xp22.11) | Complex cortical dysplasia with other brain malformations 1 |
| PDYN (20p13) | Congenital cataracts-facial dysmorphism-neuropathy syndrome |
| PEX10 (1p36.32) | Congenital insensitivity to pain-hypohidrosis syndrome |
| PLEKHG5 (1p36.31) | Congenital sensory neuropathy with selective loss of small myelinated fibers |
| PMP2 (8q21.13) | Deafness, congenital heart defects, and posterior embryotoxon |
| PMP22 (17p12) | Dejerine-Sottas disease |
| PNKP (19q13.33) | Developmental and epileptic encephalopathy, 5 |
| POLG (15q26.1) | Developmental delay with or without epilepsy |
| POLG2 (17q23.3) | Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy |
| POLR3B (12q23.3) | Diabetes mellitus type 1 |
| PRDM12 (9q34.12) | Dilated cardiomyopathy 1HH |
| PRPS1 (Xq22.3) | Encephalopathy, porphyria-related |
| PRX (19q13.2) |
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
|
| PTRH2 (17q23.1) | Familial dysautonomia |
| RAB7A (3q21.3) | Familial episodic pain syndrome with predominantly lower limb involvement |
| REEP1 (2p11.2) | Familial visceral amyloidosis, Ostertag type |
| RETREG1 (5p15.1) | Farber lipogranulomatosis |
| SBF1 (22q13.33) | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement |
| SBF2 (11p15.4) | Finnish type amyloidosis |
| SCN11A (3p22.2) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 |
| SCN9A (2q24.3) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
| SCYL1 (11q13.1) | GNE myopathy |
| SEPTIN9 (17q25.3) | Giant axonal neuropathy 1 |
| SETX (9q34.13) | Giant axonal neuropathy 2 |
| SH3TC2 (5q32) | Hereditary insensitivity to pain with anhidrosis |
| SIGMAR1 (9p13.3) | Hereditary motor and sensory neuropathy, Okinawa type |
| SLC12A6 (15q14) | Hereditary sensory and autonomic neuropathy type 6 |
| SLC25A19 (17q25.1) | Hereditary sensory and autonomic neuropathy type 7 |
| SLC25A46 (5q22.1) | Hereditary sensory and autonomic neuropathy with spastic paraplegia |
| SLC52A2 (8q24.3) | Hereditary sensory neuropathy-deafness-dementia syndrome |
| SLC52A3 (20p13) | Hereditary spastic paraplegia 11 |
| SLC5A7 (2q12.3) | Hereditary spastic paraplegia 49 |
| SPG11 (15q21.1) | Hypoalphalipoproteinemia, primary, 1 |
| SPTAN1 (9q34.11) | Hypoalphalipoproteinemia, primary, 2 |
| SPTBN4 (19q13.2) | Hypoalphalipoproteinemia, primary, 2, intermediate |
| SPTLC1 (9q22.31) | Hypomagnesemia, seizures, and intellectual disability 2 |
| SPTLC2 (14q24.3) |
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
|
| SUCLA2 (13q14.2) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 |
| SURF1 (9q34.2) | Infantile onset spinocerebellar ataxia |
| TDP1 (14q32.11) | Infantile-onset X-linked spinal muscular atrophy |
| TECPR2 (14q32.31) | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome |
| TFG (3q12.2) | Leukoencephalopathy, porphyria-related |
| TK2 (16q21) | Lower motor neuron syndrome with late-adult onset |
| TRIM2 (4q31.3) | Macular degeneration, age-related, 3 |
| TRPV4 (12q24.11) | Metachromatic leukodystrophy |
| TTR (18q12.1) | Microcephaly, seizures, and developmental delay |
| TUBB3 (16q24.3) | Mitochondrial DNA depletion syndrome 16 (hepatic type) |
| TWNK (10q24.31) | Mitochondrial DNA depletion syndrome 4b |
| UBA1 (Xp11.3) | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
| PCV (9p13.3) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
|
| VRK1 (14q32.2) | Mitochondrial DNA depletion syndrome, myopathic form |
| VWA1 (1p36.33) | Mitochondrial complex IV deficiency, nuclear type 1 |
| WARS1 (14q32.2) | Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) |
| WNK1 (12p13.33) | Mitochondrial trifunctional protein deficiency 2 |
| YARS1 (1p35.1) | Myofibrillar myopathy 6 |
| Neuroblastoma, susceptibility to, 1 | |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | |
|
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
|
|
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | |
| Neuronopathy, distal hereditary motor, autosomal dominant 10 | |
| Neuronopathy, distal hereditary motor, autosomal dominant 11 | |
| Neuronopathy, distal hereditary motor, autosomal recessive 10 | |
| Neuronopathy, distal hereditary motor, autosomal recessive 7 | |
| Neuronopathy, distal hereditary motor, type 2A | |
| Neuronopathy, distal hereditary motor, type 2B | |
| Neuronopathy, distal hereditary motor, type 2C | |
| Neuronopathy, distal hereditary motor, type 2D | |
| Neuronopathy, distal hereditary motor, type 5A | |
| Neuronopathy, distal hereditary motor, type 5B | |
| Neuronopathy, distal hereditary motor, type 7A | |
| Neuronopathy, distal hereditary motor, type 7B | |
| Neuronopathy, distal hereditary motor, type 9 | |
| Neuropathy, hereditary motor and sensory, type 6A | |
| Neuropathy, hereditary motor and sensory, type 6B | |
| Neuropathy, hereditary sensory and autonomic, type 1A | |
| Neuropathy, hereditary sensory and autonomic, type 1C | |
| Neuropathy, hereditary sensory and autonomic, type 2A | |
| Neuropathy, hereditary sensory and autonomic, type 2B | |
| Neuropathy, hereditary sensory, type 1D | |
| Neuropathy, hereditary sensory, type 1F | |
| Neuropathy, hereditary sensory, type 2C | |
| PHARC syndrome | |
|
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
|
|
| Peroxisome biogenesis disorder 6A (Zellweger) | |
| Peroxisome biogenesis disorder 6B | |
| Perrault syndrome 5 | |
| Pontocerebellar hypoplasia type 1A | |
| Pontocerebellar hypoplasia, type 1E | |
| Primary CD59 deficiency | |
| Progressive bulbar palsy of childhood | |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | |
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
|
|
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
|
|
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
|
|
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
|
|
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
|
|
| Progressive sclerosing poliodystrophy | |
| Proximal myopathy with extrapyramidal signs | |
| Sandhoff disease | |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | |
| Sialuria | |
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | |
| Spinocerebellar ataxia 43 | |
| Spinocerebellar ataxia type 23 | |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | |
| Tangier disease | |
| Tay-Sachs disease | |
| Tay-Sachs disease, variant AB | |
| Tetralogy of Fallot | |
| Thrombocytopenia 12 with or without myopathy | |
| Usher syndrome type 3B | |
| VEXAS syndrome | |
| Webb-Dattani syndrome | |
| Enfermedad de Wilson | |
| Atrofia muscular espinal distal ligada al cromosoma X tipo 3 |
Panel Neuromuscular
Estudio Neuromuscular
Panel dirigido a 316 genes asociados al neuromuscular, se analizan 325 condiciones.
$17,100 MN
Panel Neuromuscular
Tabla de genes y condiciones
| GENES | CONDICIONES |
| AARS1 (16q22.1) | Leucoencefalopatía hereditaria difusa con esferoides 2 |
| ABHD5 (3p21.33) | Aciduria 3-metilglutacónica tipo 2 |
| ACAD9 (3q21.3) | Ataxia cerebelosa abortiva |
| ACADM (1p31.1) | Miopatía por acumulación de actina |
| ACADVL (17p13.1) | Deficiencia de acil-CoA deshidrogenasa 9 |
| ACTA1 (1q42.13) | Enfermedad de cuerpos poliglucosánicos del adulto |
| ACTG2 (2p13.1) | Agenesia del cuerpo calloso con neuropatía periférica |
| ADGRG6 (6q24.2) | Rabdomiosarcoma alveolar |
| AGL (1p21.2) | Esclerosis lateral amiotrófica tipo 1 |
| AGRN (1p36.33) | Esclerosis lateral amiotrófica tipo 21 |
| AHCY (20q11.22) | Esclerosis lateral amiotrófica tipo 8 |
| AIFM1 (Xq26.1) | Síndrome de Andersen-Tawil |
| ALDOA (16p11.2) | Displasia arritmogénica del ventrículo derecho 1 |
| ALG14 (1p21.3) | Artrogriposis múltiple congénita 1, neurogénica, con defecto de mielina |
| ALG2 (9q22.33) | Artrogriposis múltiple congénita 5 |
| AMPD1 (1p13.2) | Artrogriposis múltiple congénita 6 |
| ANO5 (11p14.3) | Artrogriposis distal, tipo 2B2 |
| ARHGEF9 (Xq11.1) | Artrogriposis distal con alteración de la propiocepción y del tacto. |
| ASAH1 (8pág. 22) | Artrogriposis, disfunción renal y colestasis 1 |
| ASCC1 (10q22.1) | Artrogriposis, disfunción renal y colestasis 2 |
| ATAD1 (10q23.31) | Miopatía centronuclear autosómica dominante |
| ATL1 (14q22.1) | Ataxia cerebelosa autosómica dominante, sordera y narcolepsia |
| ATP2A1 (16p11.2) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) |
| ATP7A (Xq21.1) | Autosomal dominant limb-girdle muscular dystrophy type 1F |
| B3GALNT2 (1q42.3) | Autosomal dominant limb-girdle muscular dystrophy type 1G |
| B4GAT1 (11q13.2) | Autosomal dominant mitochondrial myopathy with exercise intolerance |
| BAG3 (10q26.11) | Autosomal recessive ataxia, Beauce type |
| BICD2 (9q22.31) | Autosomal recessive axonal neuropathy with neuromyotonia |
| BIN1 (2q14.3) | Autosomal recessive limb-girdle muscular dystrophy type 2A |
| BSCL2 (11q12.3) | Autosomal recessive limb-girdle muscular dystrophy type 2C |
| CACNA1S (1q32.1) | Autosomal recessive limb-girdle muscular dystrophy type 2D |
| CAPN3 (15q15.1) | Autosomal recessive limb-girdle muscular dystrophy type 2E |
| BARRIL (Xp11.4) | Autosomal recessive limb-girdle muscular dystrophy type 2I |
| CASQ1 (1q23.2) | Autosomal recessive limb-girdle muscular dystrophy type 2J |
| CAV1 (7q31.2) | Autosomal recessive limb-girdle muscular dystrophy type 2P |
| CAV3 (3p25.3) | Autosomal recessive limb-girdle muscular dystrophy type 2Q |
| CCDC78 (16p13.3) | Autosomal recessive limb-girdle muscular dystrophy type 2R1 |
| CFL2 (14q13.1) | Autosomal recessive limb-girdle muscular dystrophy type 2T |
| CHARLA (10q11.23) | Autosomal recessive limb-girdle muscular dystrophy type 2U |
| CHCHD10 (22q11.23) | Autosomal recessive limb-girdle muscular dystrophy type 2X |
| CHKB (22q13.33) | Autosomal recessive limb-girdle muscular dystrophy type 2Y |
| ARNCh1 (2q31.1) | Autosomal recessive limb-girdle muscular dystrophy type R18 |
| CHRNB1 (17p13.1) | Autosomal recessive multiple pterygium syndrome |
| CHRND (2q37.1) | Autosomal recessive nonsyndromic hearing loss 89 |
| CRNE (17p13.2) | Bailey-Bloch congenital myopathy |
| CHRNG (2q37.1) | Bardet-Biedl syndrome 11 |
| CHST14 (15q15.1) | Becker muscular dystrophy |
| CLCN1 (7q34) | Bethlem myopathy 1A |
| CNTNAP1 (17q21.2) | Bethlem myopathy 2 |
| COL12A1 (6q13-14.1) | Bilateral parasagittal parieto-occipital polymicrogyria |
| COL13A1 (10q22.1) | Brody myopathy |
| COL6A1 (21q22.3) | Brown-Vialetto-van Laere syndrome 1 |
| COL6A2 (21q22.3) | Brown-Vialetto-van Laere syndrome 2 |
| COL6A3 (2q37.3) | Bruck syndrome 1 |
| COLQ (3p25.1) | Bruck syndrome 2 |
| COQ2 (4q21.23) | Brugada syndrome 6 |
| COX6A1 (12q24.31) | Carney complex – trismus – pseudocamptodactyly syndrome |
| CPT2 (1p32.3) | Carnitine acylcarnitine translocase deficiency |
| CRLF1 (19p13.11) | Carnitine palmitoyl transferase II deficiency, neonatal form |
| CRPPA (7p21.2) | Cataract 19 multiple types |
| LLORAR (11q23.1) | Cerebrooculofacioskeletal syndrome 1 |
| CSRP3 (11p15.1) | Charcot-Marie-Tooth disease X-linked dominant 1 |
| CTDP1 (18q23) | Charcot-Marie-Tooth disease X-linked dominant 6 |
| DAG1 (3p21.31) | Charcot-Marie-Tooth disease axonal type 2F |
| DCTN1 (2p13.1) | Charcot-Marie-Tooth disease axonal type 2L |
| DES (2q35) | Charcot-Marie-Tooth disease axonal type 2P |
| DGUOK (2p13.1) | Charcot-Marie-Tooth disease axonal type 2Q |
| DHCR24 (1p32.3) | Charcot-Marie-Tooth disease axonal type 2S |
| DHTKD1 (10p14) | Charcot-Marie-Tooth disease axonal type 2X |
| DMD (Xp21.2-21.1) | Charcot-Marie-Tooth disease dominant intermediate E |
| DMPK (19q13.32) | Charcot-Marie-Tooth disease dominant intermediate F |
| ADN2 (10q21.3) | Charcot-Marie-Tooth disease recessive intermediate A |
| DNAJB2 (2q35) | Charcot-Marie-Tooth disease recessive intermediate D |
| DNAJB6 (7q36.3) | Charcot-Marie-Tooth disease type 1C |
| DNM2 (19p13.2) | Charcot-Marie-Tooth disease type 1D |
| DNMT1 (19p13.2) | Charcot-Marie-Tooth disease type 2A2 |
| DOK7 (4p16.3) | Charcot-Marie-Tooth disease type 2B |
| DPAGT1 (11q23.3) | Charcot-Marie-Tooth disease type 2R |
| DPM1 (20q13.13) | Charcot-Marie-Tooth disease type 4B1 |
| DPM2 (9q34.11) | Charcot-Marie-Tooth disease type 4B2 |
| DPM3 (1q22) | Charcot-Marie-Tooth disease type 4B3 |
| DYNC1H1 (14q32.31) | Charcot-Marie-Tooth disease type 4C |
| DYSF (2p13.2) | Charcot-Marie-Tooth disease type 4D |
| ECEL1 (2q37.1) | Charcot-Marie-Tooth disease type 4F |
| EGR2 (10q21.3) | Charcot-Marie-Tooth disease type 4G |
| ELP1 (9q31.3) | Charcot-Marie-Tooth disease type 4H |
| EMD (Xq28) | Charcot-Marie-Tooth disease, type IA |
| ENO3 (17p13.2) | Coenzyme Q10 deficiency, primary, 1 |
| ERCC5 (13q33.1) | Cold-induced sweating syndrome 1 |
| ERCC6 (10q11.23) | Colorectal cancer |
| ETFA (15q24.2-24.3) | Combined immunodeficiency due to STIM1 deficiency |
| ETFB (19q13.41) |
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
|
| ETFDH (4q32.1) | Congenital cataracts-facial dysmorphism-neuropathy syndrome |
| EXOSC3 (9p13.2) | Congenital disorder of glycosylation type 1E |
| EXOSC8 (13q13.3) | Congenital generalized lipodystrophy type 3 |
| FBLN5 (14q32.12) | Congenital multicore myopathy with external ophthalmoplegia |
| FBN2 (5q23.3) | Congenital muscular dystrophy due to integrin alpha-7 deficiency |
| FBXO38 (5q32) |
Congenital muscular dystrophy with intellectual disability and severe epilepsy
|
| FDX2 (19p13.2) |
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
|
| Grupo de discusión 4 (12 págs. 11, 21) | Congenital myasthenic syndrome 10 |
| FHL1 (Xq26.3) | Congenital myasthenic syndrome 11 |
| FIG4 (6q21) | Congenital myasthenic syndrome 12 |
| FKBP10 (17q21.2) | Congenital myasthenic syndrome 14 |
| FKBP14 (7p14.3) | Congenital myasthenic syndrome 19 |
| FKRP (19q13.32) | Congenital myasthenic syndrome 20 |
| FKTN (9q31.2) | Congenital myasthenic syndrome 21 |
| FLAD1 (1q21.3) | Congenital myasthenic syndrome 2C |
| FLCN (17p11.2) | Congenital myasthenic syndrome 3C |
| GAA (17q25.3) | Congenital myasthenic syndrome 4B |
| GAN (16q23.2) | Congenital myasthenic syndrome 5 |
| GARS1 (7p14.3) | Congenital myasthenic syndrome 7 |
| GBA1 (1q22) | Congenital myasthenic syndrome 8 |
| GBE1 (3p12.2) | Congenital myopathy 23 |
| GDAP1 (8q21.11) | Congenital myopathy 4B, autosomal recessive |
| GFPT1 (2p13.3) | Congenital myopathy with fiber type disproportion |
| GJB1 (Xq13.1) | Congenital myopathy with internal nuclei and atypical cores |
| GLDN (15q21.2) | Congenital myopathy with reduced type 2 muscle fibers |
| GLE1 (9q34.11) | Congenital myotonia, autosomal recessive form |
| GLRA1 (5q33.1) | Congenital nonprogressive myopathy with Moebius and Robin sequences |
| GLRB (4q32.1) | Congenital vertical talus |
| GMPPB (3p21.31) | Costello syndrome |
| GNB4 (3q26.33) | Cutis laxa, autosomal dominant 2 |
| GNE (9p13.3) | D,L-2-hydroxyglutaric aciduria |
| GPHN (14q23.3-24.1) | DPAGT1-congenital disorder of glycosylation |
| GYG1 (3q24) | Danon disease |
| GYS1 (19q13.33) | Desmosterolosis |
| HADHA (2p23.3) | Developmental and epileptic encephalopathy, 8 |
| HADHB (2p23.3) |
Diffuse cerebral and cerebellar atrophy – intractable seizures – progressive microcephaly syndrome
|
| SUGERENCIA1 (5q23.3) | Dilated cardiomyopathy 1C |
| HK1 (10q22.1) | Dilated cardiomyopathy 1L |
| HNRNPDL (4q21.22) | Distal arthrogryposis type 2B1 |
| HOXD10 (2q31.1) | Distal arthrogryposis type 5D |
| HRAS (11p15.5) | Distal myopathy, Tateyama type |
| HSPB1 (7q11.23) | Early-onset myopathy with fatal cardiomyopathy |
| HSPB3 (5q11.2) | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| HSPB8 (12q24.23) | Ehlers-Danlos syndrome, musculocontractural type 1 |
| HSPG2 (1p36.12) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant |
| IGHMBP2 (11q13.3) | Emery-Dreifuss muscular dystrophy 7, autosomal dominant |
| INF2 (14q32.33) | Episodic ataxia type 1 |
| Unidad de cuidados intensivos (12q23.3) | FG syndrome 4 |
| ITGA7 (12q13.2) | Facioscapulohumeral muscular dystrophy 2 |
| KARS1 (16q23.1) | Familial digital arthropathy-brachydactyly |
| KAT6B (10q22.2) | Familial infantile myasthenia |
| KBTBD13 (15q22.31) | Farber lipogranulomatosis |
| KCNA1 (12p13.32) | Fatal infantile hypertonic myofibrillar myopathy |
| KCNE3 (11q13.4) |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
|
| KCNJ2 (17q24.3) | Fetal akinesia deformation sequence 1 |
| KIF1A (2q37.3) | Freeman-Sheldon syndrome |
| KIF1B (1p36.22) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 |
| KIF5A (12q13.3) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
| KLHL40 (3p22.1) | Gaucher disease type I |
| KLHL41 (2q31.1) | Genitopatellar syndrome |
| KLHL7 (7p15.3) | Giant axonal neuropathy 1 |
| KY (3q22.2) | Glycogen storage disease IXd |
| LAMA2 (6q22.33) | Glycogen storage disease XV |
| LAMB2 (3p21.31) |
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
|
| LÁMPARA2 (Xq24) |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
|
| GRANDE1 (22q12.3) | Glycogen storage disease due to muscle beta-enolase deficiency |
| LDB3 (10q23.2) | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency |
| LDHA (11p15.1) | Glycogen storage disease type III |
| LGI4 (19q13.12) | Glycogen storage disease type X |
| LIM2 (19q13.41) | Glycogen storage disease, type II |
| LITAF (16p13.13) | Glycogen storage disease, type V |
| LMNA (1q22) | Glycogen storage disease, type VII |
| LMOD3 (3p14.1) | HNSHA due to aldolase A deficiency |
| LPIN1 (2p25.1) | Heart-hand syndrome, Slovenian type |
| LRP4 (11p11.2) | Hereditary insensitivity to pain with anhidrosis |
| LRSAM1 (9q33.3-34.11) | Hereditary myopathy with lactic acidosis due to ISCU deficiency |
| MAGEL2 (15q11.2) | Hereditary spastic paraplegia 10 |
| MAMLD1 (Xq28) | Hereditary spastic paraplegia 30 |
| MARS1 (12q13.3) | Hereditary spastic paraplegia 57 |
| MATR3 (5q31.2) | Hyperekplexia 1 |
| MED25 (19q13.33) | Hyperekplexia 2 |
| MEGF10 (5q23.2) | Hyperekplexia 3 |
| MFN2 (1p36.22) | Hyperekplexia 4 |
| MICU1 (10q22.1) |
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
|
| MPV17 (2p23.3) | Hypertrophic cardiomyopathy 10 |
| MPZ (1q23.3) | Hypertrophic cardiomyopathy 12 |
| MTM1 (Xq28) | Hypertrophic cardiomyopathy 25 |
| MTMR14 (3p25.3) | Hypokalemic periodic paralysis, type 1 |
| MTMR2 (11q21) | Hypokalemic periodic paralysis, type 2 |
| ALMIZCLE (9q31.3) | Hypospadias 2, X-linked |
| MYBPC1 (12q23.2) |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
|
| MYBPC3 (11p11.2) |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
|
| MYH2 (17p13.1) | Infantile onset spinocerebellar ataxia |
| MYH3 (17p13.1) | Infantile-onset X-linked spinal muscular atrophy |
| MYH7 (14q11.2) | Intellectual disability, autosomal dominant 13 |
| MYH8 (17p13.1) | Ketoacidosis due to monocarboxylate transporter-1 deficiency |
| MYL1 (2q34) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| MYL2 (12q24.11) | Kugelberg-Welander disease |
| MYMK (9q34.2) | Left ventricular noncompaction 10 |
| MYO18B (22q12.1) | Lethal Kniest-like syndrome |
| MYO9A (15q23) | Lethal congenital contracture syndrome 1 |
| MYOT (5q31.2) | Lethal congenital contracture syndrome 11 |
| MYPN (10q21.3) | Lethal congenital contracture syndrome 3 |
| NALCN (13q32.3-33.1) | Lethal congenital contracture syndrome 9 |
| NDRG1 (8q24.22) | Lethal multiple pterygium syndrome |
| NEB (2q23.3) | Limb-girdle muscular dystrophy due to POMK deficiency |
| NTRK1 (1q23.1) | Lower motor neuron syndrome with late-adult onset |
| OPA1 (3q29) | MEGF10-related myopathy |
| OPA3 (19q13.32) | MYH7-related skeletal myopathy |
| PAX7 (1p36.13) | MYPN-related myopathy |
| PDK3 (Xp22.11) | Macular degeneration, early-onset |
| PFKM (12q13.11) | Marinesco-Sjögren syndrome |
| PGAM2 (7p13) | McLeod neuroacanthocytosis syndrome |
| PGK1 (Xq21.1) | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| PGM1 (1p31.3) | Medulloblastoma |
| PHKA1 (Xq13.1) | Megaconial type congenital muscular dystrophy |
| PIEZO2 (18p11.22-11.21) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 |
| PIP5K1C (19p13.3) | Mitochondrial DNA deletion syndrome with progressive myopathy |
| PLEC (8q24.3) | Mitochondrial DNA depletion syndrome 1 |
| PLEKHG5 (1p36.31) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) |
| PLOD2 (3q24) | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
| PMM2 (16p13.2) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
|
| PMP22 (17p12) |
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
|
| PNPLA2 (11p15.5) | Mitochondrial trifunctional protein deficiency |
| POGLUT1 (3q13.33) | Miyoshi muscular dystrophy 1 |
| POLG (15q26.1) | Miyoshi muscular dystrophy 3 |
| POLG2 (17q23.3) | Multiple acyl-CoA dehydrogenase deficiency |
| POMGNT1 (1p34.1) | Muscle AMP deaminase deficiency |
| POMGNT2 (3p22.1) | Muscular dystrophy, limb-girdle, autosomal recessive 23 |
| POMK (8p11.21) |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
|
| POMT1 (9q34.13) |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
|
| POMT2 (14q24.3) |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
|
| POPDC1 (6q21) |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
|
| PREPL (2p21) |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
|
| PRKAG2 (7q36.1) |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
|
| PRPS1 (Xq22.3) |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
|
| PRX (19q13.2) |
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
|
| PYGM (11q13.1) |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
|
| PYROXD1 (12p12.1) | Myasthenic syndrome, congenital, 22 |
| QARS1 (3p21.31) | Myasthenic syndrome, congenital, 23, presynaptic |
| RAB7A (3q21.3) | Myasthenic syndrome, congenital, 24, presynaptic |
| RAPSN (11p11.2) | Myoclonic dystonia 11 |
| RBCK1 (20p13) | Myofibrillar myopathy 3 |
| REEP1 (2p11.2) | Myofibrillar myopathy 6 |
| RETREG1 (5p15.1) | Myofibrillar myopathy 7 |
| RRM2B (8q22.3) | Myofibrillar myopathy 8 |
| RXYLT1 (12q14.2) | Myoglobinuria, acute recurrent, autosomal recessive |
| RYR1 (19q13.2) | Myopathy due to calsequestrin and SERCA1 protein overload |
| SBF1 (22q13.33) | Myopathy with abnormal lipid metabolism |
| SBF2 (11p15.4) | Myopathy, centronuclear, 2 |
| SCN4A (17q23.3) | Myopathy, centronuclear, 5 |
| SELENÓN (1p36.11) | Myopathy, congenital, with tremor |
| ASCG (17q21.33) | Myopathy, epilepsy, and progressive cerebral atrophy |
| SGCB (4q12) | Myopathy, myofibrillar, 9, with early respiratory failure |
| SGCD (5q33.2-33.3) | Myopathy, proximal, and ophthalmoplegia |
| SGCE (7q21.3) | Myopathy, reducing body, X-linked, childhood-onset |
| GCCG (13q12.12) | Myopathy, reducing body, X-linked, early-onset, severe |
| SH3TC2 (5q32) | Myosclerosis |
| SIL1 (5q31.2) | Nemaline myopathy 10 |
| SLC12A6 (15q14) | Nemaline myopathy 2 |
| SLC16A1 (1p13.2) | Nemaline myopathy 5 |
| SLC18A3 (10q11.23) | Nemaline myopathy 6 |
| SLC22A5 (5q31.1) | Nemaline myopathy 7 |
| SLC25A1 (22q11.21) | Nemaline myopathy 8 |
| SLC25A20 (3p21.31) | Nemaline myopathy 9 |
| SLC25A46 (5q22.1) | Neuroblastoma, susceptibility to, 1 |
| SLC52A2 (8q24.3) | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness |
| SLC52A3 (20p13) |
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
|
| SLC5A7 (2q12.3) | Neurodevelopmental disorder with visual defects and brain anomalies |
| SLC6A5 (11p15.1) | Neurogenic scapuloperoneal syndrome, Kaeser type |
| SMCHD1 (18p11.32) |
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
|
| SMN1 (5q13.2) | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| SMN2 (5q13.2) | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| SMPD4 (2q21.1) | Neuronopathy, distal hereditary motor, type 2C |
| SPEG (2q35) | Neuronopathy, distal hereditary motor, type 2D |
| SPG11 (15q21.1) | Neuronopathy, distal hereditary motor, type 5A |
| SPTBN4 (19q13.2) | Neuronopathy, distal hereditary motor, type 5B |
| SPTLC1 (9q22.31) | Neuronopathy, distal hereditary motor, type 5C |
| SPTLC2 (14q24.3) | Neuropathy, congenital hypomyelinating, 3 |
| STAC3 (12q13.3) | Neuropathy, hereditary motor and sensory, type 6B |
| STIM1 (11p15.4) | Neuropathy, hereditary sensory and autonomic, type 1A |
| SUCLA2 (13q14.2) | Neuropathy, hereditary sensory and autonomic, type 1C |
| SYNE1 (6q25.2) | Neuropathy, hereditary sensory and autonomic, type 2B |
| SYNE2 (14q23.2) | Neuropathy, hereditary sensory, type 1D |
| SYT2 (1q32.1) | Neutral lipid storage myopathy |
| TAFAZZIN (Xq28) | Optic atrophy 3 |
| TANGO2 (22q11.21) | PGM1-congenital disorder of glycosylation |
| TBCK (4q24) | PMM2-congenital disorder of glycosylation |
| TCAP (17q12) | Phosphoribosylpyrophosphate synthetase superactivity |
| TFG (3q12.2) | Pierson syndrome |
| TGFB3 (14q24.3) | Polyglucosan body myopathy type 1 |
| TIA1 (2p13.3) | Pontocerebellar hypoplasia type 1A |
| TK2 (16q21) | Pontocerebellar hypoplasia type 1B |
| TMEM43 (3p25.1) | Pontocerebellar hypoplasia type 2B |
| TNNI2 (11p15.5) | Pontocerebellar hypoplasia, type 1C |
| TNNT1 (19q13.42) | Pontocerebellar hypoplasia, type 1E |
| TNNT3 (11p15.5) |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
|
| TNPO3 (7q32.1) |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
|
| TOR1A (9q34.11) | Progressive sclerosing poliodystrophy |
| TOR1AIP1 (1q25.2) | Proximal myopathy with extrapyramidal signs |
| TPM2 (9p13.3) | Pseudohypoaldosteronism type 2C |
| TPM3 (1q21.3) |
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
|
| TRAPPC11 (4q35.1) | Defecto del transporte renal de carnitina |
| TRIM2 (4q31.3) | Retinosis pigmentaria 42 |
| TRIM32 (9q33.1) | Retinosis pigmentaria 76 |
| TRIP4 (15q22.31) |
Distrofia de conos y bastones, sordera neurosensorial y disfunción renal tipo Fanconi
|
| TRPV4 (12q24.11) | Síndrome de Roussy-Lévy |
| TSEN2 (3p25.2) | Síndrome de Schaaf-Yang |
| TSFM (12q14.1) | Esclerosteosis 2 |
| TTN (2q31.2) | Miopatía miotubular grave ligada al cromosoma X |
| TWNK (10q24.31) |
Proteinosis alveolar pulmonar grave de inicio temprano debido a deficiencia de MARS
|
| TYMP (22q13.33) | Sialuria |
| UBA1 (Xp11.3) | Ataxia espástica 1 |
| VAMP1 (12p13.31) | Atrofia muscular espinal con fracturas óseas congénitas 2 |
| VAPB (20q13.32) |
Atrofia muscular espinal, predominante en extremidades inferiores, 2b, inicio prenatal, autosómica dominante
|
| PCV (9p13.3) | Atrofia muscular espinal, tipo IV |
| VIPAS39 (14q24.3) | Displasia espondiloepimetafisaria tipo Bieganski |
| VMA21 (Xq28) | Síndrome de distrofia miotónica de Steinert |
| VPS33B (15q26.1) |
Deficiencia de sulfito oxidasa debido a la deficiencia del cofactor molibdeno tipo C
|
| VRK1 (14q32.2) | distrofia muscular tibial |
| WNK1 (12p13.33) | Enfermedad por almacenamiento de triglicéridos con ictiosis |
| XK (Xp21.1) | Distrofia muscular congénita de Ullrich 1A |
| YARS1 (1p35.1) | Síndrome faciocardiomusculoesquelético uruguayo |
| ZC4H2 (Xq11.2) | Deficiencia de acil-CoA deshidrogenasa de cadena muy larga |
| Miopatía distal de Welander | |
| Síndrome de Wieacker-Wolff, restringido a mujeres | |
| Patrón de Wolff-Parkinson-White | |
| Distrofia muscular de Emery-Dreifuss ligada al cromosoma X | |
| Atrofia muscular espinal distal ligada al cromosoma X tipo 3 | |
| Miopatía ligada al cromosoma X con autofagia excesiva | |
| Miopatía ligada al cromosoma X con atrofia muscular postural | |
| Distrofia muscular escapuloperoneal ligada al cromosoma X | |
| Xeroderma pigmentoso, grupo G |
Panel Infertilidad femenina
Este estudio incluye Cariotipo bandas G y panel de 105 genes en donde se analizan 96 condiciones (sindrome bardet-biedl, Hipogonadismo hipogonadotrópico, Insuficiencia ovárica, entre otros).
$22,000 MN
Panel de Infertilidad femenina
Tabla de genes y condiciones
| GENES | CONDICIONES |
| AIRE (21q22.3) | Síndrome autoinmune poliglandular tipo 1 |
| AKR1C4 (10p15.1) |
Deficiencia de 3-oxo-5 alfa-esteroide delta 4-deshidrogenasa
|
| ANOS1 (Xp22.31) |
Síndrome de disgenesia ovárica-talla baja 46,XX
|
| AR (Xq12) | 46,XX inversión de sexo 1 |
| ARL6 (3q11.2) |
Trastorno del desarrollo sexual 46,XY debido a deficiencia de 17,20-desmolasa testicular
|
| ARX (Xp21.3) | 46,XY inversión de sexo 5 |
| ATRX (Xq21.1) | 46,XY inversión de sexo 6 |
| AXL (19q13.2) | 46,XY inversión de sexo 7 |
| BBS1 (11q13.2) |
Síndrome de discapacidad intelectual ligado al cromosoma X y alfa talasemia
|
| BBS10 (12q21.2) | Síndrome de resistencia a los andrógenos |
| BBS12 (4q27) |
Síndrome de anoftalmia/microftalmia-atresia esofágica
|
| BBS2 (16q13) |
Síndrome de Antley-Bixler sin anomalías genitales ni esteroidogénesis alterada
|
| BBS4 (15q24.1) | Síndrome de exceso de aromatasa |
| BBS5 (2q31.1) | Síndrome de Bardet-Biedl |
| BBS7 (4q27) | Síndrome de Bardet-Biedl 10 |
| BBS9 (7p14.3) | Síndrome de Bardet-Biedl 11 |
| BMP15 (Xp11.22) | Síndrome de Bardet-Biedl 12 |
| CBX2 (17q25.3) | Síndrome de Bardet-Biedl 2 |
| CCDC141 (2q31.2) | Síndrome de Bardet-Biedl 4 |
| CHD7 (8q12.2) | Síndrome de Bardet-Biedl 5 |
| CLPP (19p13.3) | Síndrome de Bardet-Biedl 7 |
| CYP11A1 (15q24.1) | Síndrome de Bardet-Biedl 8 |
| CYP17A1 (10q24.32) | Síndrome de Bardet-Biedl 9 |
| CYP19A1 (15q21.2) |
Blefarofimosis, ptosis y síndrome del epicanto inverso
|
| DHH (12q13.12) | Síndrome de CHARGE |
| DMRT1 (9p24.3) | Displasia camptomélica |
| DMRT2 (9p24.3) |
Hiperplasia suprarrenal congénita por deficiencia de oxidorreductasa del citocromo P450
|
| DUSP6 (12q21.33) |
Hipoplasia suprarrenal congénita ligada al cromosoma X
|
| EIF2B1 (12q24.31) |
Insuficiencia suprarrenal congénita con inversión sexual 46,XY O trastorno del desarrollo sexual 46,XY-insuficiencia suprarrenal debido a deficiencia de CYP11A1
|
| EIF2B2 (14q24.3) |
Hiperplasia suprarrenal lipoidea congénita debida a deficiencia de STAR
|
| EIF2B3 (1p34.1) |
Deficiencia de UDPglucosa-hexosa-1-fosfato uridililtransferasa
|
| EIF2B4 (2p23.3) |
Deficiencia de esteroide 17-alfa-monooxigenasa
|
| EIF2B5 (3q27.1) |
Síndrome de miocardiopatía dilatada-hipogonadismo hipergonadotrópico
|
| FEZF1 (7q31.32) | Hiperprolactinemia familiar |
| FGF17 (8p21.3) |
Infertilidad femenina debido a defecto de la zona pelúcida
|
| FGF8 (10q24.32) | Resistencia a los glucocorticoides |
| FGFR1 (8p11.23) |
Precocidad sexual familiar independiente de la gonadotropina
|
| FGFR2 (10q26.13) | Síndrome de Guttmacher |
| FIGLA (2p13.3) | Hemocromatosis tipo 1 |
| FLRT3 (20p12.1) |
Hipogonadismo hipogonadotrópico 1 con o sin anosmia
|
| FOXL2 (3q22.3) |
Hipogonadismo hipogonadotrópico 10 con o sin anosmia
|
| FSHB (11p14.1) |
Hipogonadismo hipogonadotrópico 11 con o sin anosmia
|
| FSHR (2p16.3) |
Hipogonadismo hipogonadotrópico 12 con o sin anosmia
|
| GALT (9p13.3) |
Hipogonadismo hipogonadotrópico 13 con o sin anosmia
|
| GNRH1 (8p21.2) |
Hipogonadismo hipogonadotrópico 14 con o sin anosmia
|
| GNRHR (4q13.2) |
Hipogonadismo hipogonadotrópico 15 con o sin anosmia
|
| HESX1 (3p14.3) |
Hipogonadismo hipogonadotrópico 16 con o sin anosmia
|
| HFE (6p22.2) |
Hipogonadismo hipogonadotrópico 17 con o sin anosmia
|
| HFM1 (1p22.2) |
Hipogonadismo hipogonadotrópico 18 con o sin anosmia
|
| HOXA13 (7p15.2) |
Hipogonadismo hipogonadotrópico 19 con o sin anosmia
|
| HS6ST1 (2q14.3) |
Hipogonadismo hipogonadotrópico 2 con o sin anosmia
|
| HSD17B3 (9q22.32) |
Hipogonadismo hipogonadotrópico 20 con o sin anosmia
|
| IL17RD (3p14.3) |
Hipogonadismo hipogonadotrópico 21 con o sin anosmia
|
| KISS1 (1q32.1) |
Hipogonadismo hipogonadotrópico 22 con o sin anosmia
|
| KISS1R (19p13.3) |
Hipogonadismo hipogonadotrópico 24 sin anosmia
|
| LEP (7q32.1) |
Hipogonadismo hipogonadotrópico 3 con o sin anosmia
|
| LEPR (1p31.3) |
Hipogonadismo hipogonadotrópico 4 con o sin anosmia
|
| LHB (19q13.33) |
Hipogonadismo hipogonadotrópico 5 con o sin anosmia
|
| LHCGR (2p16.3) |
Hipogonadismo hipogonadotrópico 6 con o sin anosmia
|
| LHX3 (9q34.3) |
Hipogonadismo hipogonadotrópico 7 con o sin anosmia
|
| LHX4 (1q25.2) |
Hipogonadismo hipogonadotrópico 8 con o sin anosmia
|
| LMNA (1q22) |
Hipogonadismo hipogonadotrópico 9 con o sin anosmia
|
| MAMLD1 (Xq28) | Hipospadias 2, ligada al cromosoma X |
| MAP3K1 (5q11.2) |
Síndrome de discapacidad intelectual-facies hipotónica, ligado al cromosoma X, 1
|
| MCM8 (20p12.3) | Deficiencia aislada de lutropina |
| MCM9 (6q22.31) | Aplasia mülleriana e hiperandrogenismo |
| MKKS (20p12.2) | Síndrome nefrótico tipo 11 |
| SIN CAJA (7q35) |
Deficiencia combinada de hormona pituitaria no adquirida con anomalías de la columna vertebral
|
| NR0B1 (Xp21.2) | Obesidad por deficiencia congénita de leptina |
| NR3C1 (5q31.3) |
Obesidad debido a la deficiencia del gen del receptor de leptina
|
| NR5A1 (9q33.3) |
Obesidad por deficiencia de prohormona convertasa I
|
| NSMF (9q34.3) | Disgenesia ovárica 1 |
| NUP107 (12q15) | Disgenesia ovárica 2 |
| PADI6 (1p36.13) | Disgenesia ovárica 3 |
| PCSK1 (5q15) | Síndrome de hiperestimulación ovárica |
| POR (7q11.23) | Síndrome de PCWH |
| PRLR (5p13.2) |
Síndrome de queratodermia palmoplantar con inversión sexual XX y predisposición al carcinoma de células escamosas
|
| PROK2 (3p13) | Panhipopituitarismo ligado al cromosoma X |
| PROKR2 (20p12.3) | Síndrome de Perrault 3 |
| PROP1 (5q35.3) |
Deficiencia de hormona pituitaria, combinada, 2
|
| PSMC3IP (17q21.2) | Letalidad embrionaria preimplantacional 2 |
| RSPO1 (1p34.3) | Insuficiencia ovárica prematura 10 |
| SEMA3A (7q21.11) | Insuficiencia ovárica prematura 12 |
| SEMA3E (7q21.11) | Insuficiencia ovárica prematura 3 |
| SOHLH1 (9q34.3) | Insuficiencia ovárica prematura 5 |
| SOX10 (22q13.1) | Insuficiencia ovárica prematura 6 |
| SOX2 (3q26.33) | Insuficiencia ovárica prematura 7 |
| SOX3 (Xq27.1) | Insuficiencia ovárica prematura 8 |
| SOX9 (17q24.3) | Insuficiencia ovárica prematura 9 |
| SPRY4 (5q31.3) | Secuencia de displasia septo-óptica |
| SRA1 (5q31.3) |
Baja estatura, defectos hipofisarios y cerebelosos, síndrome de silla turca pequeña
|
| SRD5A2 (2p23.1) | Insuficiencia espermatogénica 15 |
| SRY (Yp11.2) |
Deficiencia de testosterona 17-beta-deshidrogenasa
|
| STAG3 (7q22.1) |
Enfermedad de la sustancia blanca que desaparece
|
| ESTRELLA (8p11.23) | Tumor de Wilms 1 |
| SYCE1 (10q26.3) |
Lisencefalia ligada al cromosoma X con genitales anormales
|
| TAC3 (12q13.3) | |
| TACR3 (4q24) | |
| TRIM32 (9q33.1) | |
| TTC8 (14q31.3) | |
| WDR11 (10q26.12) | |
| WNT4 (1p36.12) | |
| WT1 (11p13) | |
| WWOX (16q23.1-23.2) | |
| ZP1 (11q12.2) |
Panel Infertilidad Masculina
Este estudio incluye Cariotipo bandas G y panel de 139 genes en donde se analizan 128 condiciones (sindrome bardet-biedl, Hipogonadismo hipogonadotrópico, Insuficiencia espermatogénica, entre otros).
$22,000 MN
Panel Infertilidad Masculina
Tabla de genes y condiciones
| GENES | CONDICIONES |
| ACTL9 (19p13.2) | Síndrome autoinmune poliglandular tipo 1 |
| ADGRG2 (Xp22.13) |
Deficiencia de 3-oxo-5 alfa-esteroide delta 4-deshidrogenasa
|
| AIRE (21q22.3) | 46,XX inversión de sexo 1 |
| AKR1C4 (10p15.1) |
Trastorno del desarrollo sexual 46,XY debido a deficiencia de 17,20-desmolasa testicular
|
| AMH (19p13.3) | 46,XY inversión de sexo 5 |
| AMHR2 (12q13.13) | 46,XY inversión de sexo 6 |
| ANOS1 (Xp22.31) | 46,XY inversión de sexo 7 |
| AR (Xq12) |
Síndrome de discapacidad intelectual ligado al cromosoma X y alfa talasemia
|
| ARL6 (3q11.2) | Síndrome de resistencia a los andrógenos |
| ARMC2 (6q21) |
Síndrome de anoftalmia/microftalmia-atresia esofágica
|
| ARX (Xp21.3) |
Síndrome de Antley-Bixler sin anomalías genitales ni esteroidogénesis alterada
|
| ATRX (Xq21.1) | Síndrome de exceso de aromatasa |
| AURKC (19q13.43) | Síndrome de Bardet-Biedl |
| AXL (19q13.2) | Síndrome de Bardet-Biedl 10 |
| BBS1 (11q13.2) | Síndrome de Bardet-Biedl 11 |
| BBS10 (12q21.2) | Síndrome de Bardet-Biedl 12 |
| BBS12 (4q27) | Síndrome de Bardet-Biedl 2 |
| BBS2 (16q13) | Síndrome de Bardet-Biedl 4 |
| BBS4 (15q24.1) | Síndrome de Bardet-Biedl 5 |
| BBS5 (2q31.1) | Síndrome de Bardet-Biedl 7 |
| BBS7 (4q27) | Síndrome de Bardet-Biedl 8 |
| BBS9 (7p14.3) | Síndrome de Bardet-Biedl 9 |
| BRDT (1p22.1) |
Blefarofimosis, ptosis y síndrome del epicanto inverso
|
| C14orf39 (14q23.1) | Síndrome de CHARGE |
| CATSPER1 (11q13.1) | Displasia camptomélica |
| CBX2 (17q25.3) |
Hiperplasia suprarrenal congénita por deficiencia de oxidorreductasa del citocromo P450
|
| CCDC141 (2q31.2) |
Hipoplasia suprarrenal congénita ligada al cromosoma X
|
| CEP112 (17q24.1) |
Insuficiencia suprarrenal congénita con inversión sexual 46,XY O trastorno del desarrollo sexual 46,XY-insuficiencia suprarrenal debido a deficiencia de CYP11A1
|
| CFAP251 (12q24.31) |
Aplasia bilateral congénita del conducto deferente por mutación CFTR
|
| CFAP43 (10q25.1) |
Hiperplasia suprarrenal lipoidea congénita debida a deficiencia de STAR
|
| CFAP44 (3q13.2) | Criptorquidia |
| CFAP47 (Xp21.1) | Fibrosis quística |
| CFAP58 (10q25.1) | Deficiencia de esteroide 17-alfa-monooxigenasa |
| CFAP65 (2q35) | Globozoospermia |
| CFAP69 (7q21.13) |
Disgenesia gonadal, facies dismórfica, distrofia retiniana y miopatía
|
| CFAP70 (10q22.2) |
Precocidad sexual familiar independiente de la gonadotropina
|
| CFAP91 (3q13.33) | Hemocromatosis tipo 1 |
| CFTR (7q31.2) |
Hipogonadismo hipogonadotrópico 1 con o sin anosmia
|
| CHD7 (8q12.2) |
Hipogonadismo hipogonadotrópico 10 con o sin anosmia
|
| CYP11A1 (15q24.1) |
Hipogonadismo hipogonadotrópico 11 con o sin anosmia
|
| CYP17A1 (10q24.32) |
Hipogonadismo hipogonadotrópico 12 con o sin anosmia
|
| CYP19A1 (15q21.2) |
Hipogonadismo hipogonadotrópico 13 con o sin anosmia
|
| DHH (12q13.12) |
Hipogonadismo hipogonadotrópico 14 con o sin anosmia
|
| DMRT1 (9p24.3) |
Hipogonadismo hipogonadotrópico 15 con o sin anosmia
|
| DMRT2 (9p24.3) |
Hipogonadismo hipogonadotrópico 16 con o sin anosmia
|
| DNAH1 (3p21.1) |
Hipogonadismo hipogonadotrópico 17 con o sin anosmia
|
| DNAH10 (12q24.31) |
Hipogonadismo hipogonadotrópico 18 con o sin anosmia
|
| DNAH17 (17q25.3) |
Hipogonadismo hipogonadotrópico 19 con o sin anosmia
|
| DNAH2 (17p13.1) |
Hipogonadismo hipogonadotrópico 2 con o sin anosmia
|
| DNAH6 (2p11.2) |
Hipogonadismo hipogonadotrópico 20 con o sin anosmia
|
| DNAH8 (6p21.2) |
Hipogonadismo hipogonadotrópico 21 con o sin anosmia
|
| DPY19L2 (12q14.2) |
Hipogonadismo hipogonadotrópico 22 con o sin anosmia
|
| DUSP6 (12q21.33) | Hipogonadismo hipogonadotrópico 24 sin anosmia |
| DZIP1 (13q32.1) |
Hipogonadismo hipogonadotrópico 3 con o sin anosmia
|
| FANCM (14q21.2) |
Hipogonadismo hipogonadotrópico 4 con o sin anosmia
|
| FEZF1 (7q31.32) |
Hipogonadismo hipogonadotrópico 5 con o sin anosmia
|
| FGF17 (8p21.3) |
Hipogonadismo hipogonadotrópico 6 con o sin anosmia
|
| FGF8 (10q24.32) |
Hipogonadismo hipogonadotrópico 7 con o sin anosmia
|
| FGFR1 (8p11.23) |
Hipogonadismo hipogonadotrópico 8 con o sin anosmia
|
| FGFR2 (10q26.13) |
Hipogonadismo hipogonadotrópico 9 con o sin anosmia
|
| FLRT3 (20p12.1) | Hipospadias 2, ligada al cromosoma X |
| FOXL2 (3q22.3) |
Infertilidad asociada a espermatozoides multicola y exceso de ADN
|
| FSHB (11p14.1) | Deficiencia aislada de lutropina |
| FSIP2 (2q32.1) | Síndrome de Juberg-Marsidi |
| GALNTL5 (7q36.1) | Aplasia mülleriana e hiperandrogenismo |
| GATA4 (8p23.1) |
Deficiencia combinada de hormona pituitaria no adquirida con anomalías de la columna vertebral
|
| GNRH1 (8p21.2) | Obesidad por deficiencia congénita de leptina |
| GNRHR (4q13.2) |
Obesidad debido a la deficiencia del gen del receptor de leptina
|
| HESX1 (3p14.3) |
Obesidad por deficiencia de prohormona convertasa I
|
| HFE (6p22.2) | Infertilidad oligosináptica |
| HS6ST1 (2q14.3) | Síndrome de PCWH |
| HSD17B3 (9q22.32) |
Síndrome de queratodermia palmoplantar con inversión sexual XX y predisposición al carcinoma de células escamosas
|
| IL17RD (3p14.3) | Panhipopituitarismo ligado al cromosoma X |
| INSL3 (19p13.11) | Síndrome del conducto de Müller persistente |
| KISS1 (1q32.1) | Deficiencia de hormona pituitaria, combinada, 2 |
| KISS1R (19p13.3) | Secuencia de displasia septo-óptica |
| KLHL10 (17q21.2) |
Baja estatura, defectos hipofisarios y cerebelosos, síndrome de silla turca pequeña
|
| LEP (7q32.1) | Insuficiencia espermatogénica 10 |
| LEPR (1p31.3) | Insuficiencia espermatogénica 11 |
| LHB (19q13.33) | Insuficiencia espermatogénica 12 |
| LHCGR (2p16.3) | Insuficiencia espermatogénica 13 |
| LHX3 (9q34.3) | Insuficiencia espermatogénica 14 |
| LHX4 (1q25.2) | Insuficiencia espermatogénica 15 |
| M1AP (2p13.1) | Insuficiencia espermatogénica 16 |
| MAMLD1 (Xq28) | Insuficiencia espermatogénica 17 |
| MAP3K1 (5q11.2) | Insuficiencia espermatogénica 19 |
| MKKS (20p12.2) | Insuficiencia espermatogénica 20 |
| NANOS1 (10q26.11) | Insuficiencia espermatogénica 21 |
| NPAS2 (2q11.2) | Insuficiencia espermatogénica 23 |
| NR0B1 (Xp21.2) | Insuficiencia espermatogénica 24 |
| NR5A1 (9q33.3) | Insuficiencia espermatogénica 25 |
| NSMF (9q34.3) | Insuficiencia espermatogénica 28 |
| PCSK1 (5q15) | Insuficiencia espermatogénica 3 |
| PICK1 (22q13.1) | Insuficiencia espermatogénica 31 |
| PLCZ1 (12p12.3) | Insuficiencia espermatogénica 32 |
| PMFBP1 (16q22.2) | Insuficiencia espermatogénica 33 |
| PNLDC1 (6q25.3) | Insuficiencia espermatogénica 34 |
| POR (7q11.23) | Insuficiencia espermatogénica 35 |
| PPP2R3C (14q13.2) | Insuficiencia espermatogénica 36 |
| PROK2 (3p13) | Insuficiencia espermatogénica 37 |
| PROKR2 (20p12.3) | Insuficiencia espermatogénica 38 |
| PROP1 (5q35.3) | Insuficiencia espermatogénica 39 |
| QRICH2 (17q25.1) | Insuficiencia espermatogénica 4 |
| RSPO1 (1p34.3) | Insuficiencia espermatogénica 40 |
| SEMA3A (7q21.11) | Insuficiencia espermatogénica 41 |
| SEMA3E (7q21.11) | Insuficiencia espermatogénica 42 |
| SEPTIN12 (16p13.3) | Insuficiencia espermatogénica 43 |
| SLC26A8 (6p21.31) | Insuficiencia espermatogénica 44 |
| SOHLH1 (9q34.3) | Insuficiencia espermatogénica 45 |
| SOX10 (22q13.1) | Insuficiencia espermatogénica 46 |
| SOX2 (3q26.33) | Insuficiencia espermatogénica 47 |
| SOX3 (Xq27.1) | Insuficiencia espermatogénica 48 |
| SOX9 (17q24.3) | Insuficiencia espermatogénica 49 |
| SPATA16 (3q26.31) | Insuficiencia espermatogénica 51 |
| SPEF2 (5p13.2) | Insuficiencia espermatogénica 52 |
| SPRY4 (5q31.3) | Insuficiencia espermatogénica 53 |
| SRA1 (5q31.3) | Insuficiencia espermatogénica 56 |
| SRD5A2 (2p23.1) | Insuficiencia espermatogénica 57 |
| SRY (Yp11.2) | Insuficiencia espermatogénica 7 |
| ESTRELLA (8p11.23) | Insuficiencia espermatogénica 8 |
| SUN5 (20q11.21) | Insuficiencia espermatogénica 9 |
| SYCE1 (10q26.3) |
Insuficiencia espermatogénica ligada al cromosoma X, 2
|
| SYCP2 (20q13.33) |
Insuficiencia espermatogénica ligada al cromosoma X, 3
|
| SYCP3 (12q23.2) |
Anomalías testiculares con o sin cardiopatía congénita
|
| TAC3 (12q13.3) | Deficiencia de testosterona 17-beta-deshidrogenasa |
| TACR3 (4q24) |
Conducto deferente, aplasia bilateral congénita, ligada al cromosoma X
|
| TAF4B (18q11.2) | Tumor de Wilms 1 |
| TEX11 (Xq13.1) |
Lisencefalia ligada al cromosoma X con genitales anormales
|
| TEX14 (17q22) | |
| TEX15 (8p12) | |
| TRIM32 (9q33.1) | |
| TTC21A (3p22.2) | |
| TTC29 (4q31.22) | |
| TTC8 (14q31.3) | |
| WDR11 (10q26.12) | |
| WNT4 (1p36.12) | |
| WT1 (11p13) | |
| WWOX (16q23.1-23.2) | |
| ZMYND15 (17p13.2) |
Panel Cardiovascular más ADNLIFE y ADNFarma
$18,100 MN
Panel Cardiovascular
Tabla de genes y condiciones
| GENES | CONDICIONES |
| A2ML1 (12p13.31) | Dermatóglifos anormales |
| ABCC9 (12p12.1) | Aciduria 3-metilglutacónica tipo 2 |
| ACADVL (17p13.1) | Aciduria 3-metilglutacónica tipo 5 |
| ACTA2 (10q23.31) | Aneurisma aórtico abdominal |
| ACTB (7p22.1) | Situs inversus abdominal |
| ACTC1 (15q14) | Motilidad ciliar anormal |
| ACTG1 (17q25.3) | Morfología dental anormal |
| ACTN2 (1q43) | Morfología anormal de los dedos |
| ACVR2B (3p22.2) | Cantidad anormal de cabello |
| ACVRL1 (12q13.13) | Morfología anormal de la hélice |
| AGL (1p21.2) |
Morfología anormal del ventrículo izquierdo
|
| AKAP9 (7q21.2) | Morfología anormal del pezón |
| ALMS1 (2p13.1) | Morfología anormal del paladar |
| ANK2 (4q25-26) |
Morfología anormal de la válvula pulmonar
|
| ANKRD1 (10q23.31) | Patrón de habla anormal |
| APOA5 (11q23.3) | Morfología anormal del esternón |
| APOB (2p24.1) | Morfología anormal de los dedos del pie |
| B4GALT7 (5q35.3) | Anormalidad de la coagulación |
| BAG3 (10q26.11) | Anormalidad del color dental |
| BBS10 (12q21.2) |
Anormalidad del metabolismo/homeostasis
|
| BCOR (Xp11.4) | Anormalidad de los neutrófilos |
| BMPR2 (2q33.1-33.2) |
Anormalidad de la pigmentación de la retina
|
| BRAF (7q34) | Anormalidad de la arteria pulmonar |
| C1R (12p13.31) | Anormalidad del bazo |
| C1S (12p13.31) | Anormalidad de los trombocitos |
| CACNA1C (12p13.33) | Ausencia de brazos externos de dineína |
| CACNA2D1 (7q21.11) | Displasia acromícrica |
| CACNB2 (10p12.33-12.31) | Adenoma sebáceo |
| CALM1 (14q32.11) | comportamiento agresivo |
| CALM2 (2p21) |
Síndrome de Alagille debido a una mutación puntual JAG1
|
| CALM3 (19q13.32) | Alopecia |
| CALR3 (19p13.11) | Síndrome de Alstrom |
| CASQ2 (1p13.1) | enfermedad de Alzheimer |
| CAV1 (7q31.2) | Enfermedad de Alzheimer 4 |
| CAV3 (3p25.3) | Amiloidosis hereditaria sistémica 1 |
| CAVIN4 (9q31.1) | Síndrome de Andersen-Tawil |
| CBL (11q23.3) | Síndrome de aneurisma-osteoartritis |
| CBS (21q22.3) | Aneurisma aórtico |
| CCDC39 (3q26.33) | Aneurisma aórtico torácico familiar 4 |
| CCDC40 (17q25.3) | Aneurisma aórtico torácico familiar 6 |
| CHD7 (8q12.2) | Aneurisma aórtico torácico familiar 7 |
| CHRM2 (7q33) | Enfermedad de la válvula aórtica 1 |
| COL3A1 (2q32.2) | Enfermedad de la válvula aórtica 2 |
| COL5A1 (9q34.3) | Aplasia/hipoplasia que afecta al ojo |
| COL5A2 (2q32.2) |
Aplasia/Hipoplasia de la musculatura de la pared abdominal
|
| COX15 (10q24.2) | Aplasia/hipoplasia del cerebelo |
| CPT1A (11q13.3) | Aplasia/Hipoplasia del cuerpo calloso |
| CPT2 (1p32.3) | Aracnodactilia |
| CRELD1 (3p25.3) | quiste aracnoideo |
| CRYAB (11q23.1) |
Miocardiopatía arritmogénica con pelo lanoso y queratodermia
|
| CSRP3 (11p15.1) |
Miocardiopatía arritmogénica del ventrículo derecho
|
| CTF1 (16p11.2) |
Displasia arritmogénica del ventrículo derecho 1
|
| CTNNA3 (10q21.3) |
Displasia arritmogénica del ventrículo derecho 10
|
| DEPDC5 (22q12.2-12.3) |
Displasia arritmogénica del ventrículo derecho 11
|
| DES (2q35) |
Displasia arritmogénica del ventrículo derecho 12
|
| DMD (Xp21.2-21.1) |
Displasia arritmogénica del ventrículo derecho 13
|
| DNAAF1 (16q24.1) |
Displasia arritmogénica del ventrículo derecho tipo 2
|
| DNAAF19 (17q21.31) |
Displasia arritmogénica del ventrículo derecho 5
|
| DNAAF2 (14q21.3) |
Displasia arritmogénica del ventrículo derecho 8
|
| DNAAF3 (19q13.42) |
Displasia arritmogénica del ventrículo derecho 9
|
| DNAAF4 (15q21.3) | Síndrome de tortuosidad arterial |
| DNAAF5 (7p22.3) | crecimiento asimétrico |
| DNAH11 (7p15.3) | Asimetría del tórax |
| DNAH5 (5p15.2) | Fibrilación auricular |
| DNAI1 (9p13.3) | Fibrilación auricular familiar, 10 |
| DNAI2 (17q25.1) | Fibrilación auricular familiar, 11 |
| DNAJC11 (1p36.31) | Fibrilación auricular familiar, 12 |
| DNAJC19 (3q26.33) | Atrial fibrillation, familial, 13 |
| DNAL1 (14q24.3) | Atrial fibrillation, familial, 14 |
| DOLK (9q34.11) | Atrial fibrillation, familial, 3 |
| DSC2 (18q12.1) | Atrial fibrillation, familial, 4 |
| DSG2 (18q12.1) | Atrial fibrillation, familial, 6 |
| DSP (6p24.3) | Atrial fibrillation, familial, 7 |
| DTNA (18q12.1) | Atrial fibrillation, familial, 9 |
| EFEMP2 (11q13.1) | Atrial septal defect |
| ELAC2 (17p12) | Atrial septal defect 2 |
| ELN (7q11.23) | Atrial septal defect 3 |
| EMD (Xq28) | Atrial septal defect 4 |
| ENG (9q34.11) | Atrial septal defect 5 |
| EYA4 (6q23.2) | Atrial septal defect 7 |
| FBN1 (15q21.1) | Atrial septal defect 9 |
| FBN2 (5q23.3) | Atrial standstill 1 |
| FHL1 (Xq26.3) | Atrial standstill 2 |
| FHL2 (2q12.2) | Atrioventricular septal defect 4 |
| FKRP (19q13.32) | Atrioventricular septal defect 5 |
| FKTN (9q31.2) |
Atrioventricular septal defect and common atrioventricular junction
|
| FLNA (Xq28) |
Atrioventricular septal defect, susceptibility to, 2
|
| FLNC (7q32.1) | Atypical behavior |
| FOXH1 (8q24.3) | Autistic behavior |
| FXN (9q21.11) |
Autoimmune lymphoproliferative syndrome type 4
|
| GAA (17q25.3) | Autoimmune thrombocytopenia |
| GATA4 (8p23.1) | Autosomal dominant inheritance |
| GATA6 (18q11.2) |
Autosomal dominant nonsyndromic hearing loss 10
|
| GATAD1 (7q21.2) |
Autosomal dominant nonsyndromic hearing loss 20
|
| GDF1 (19p13.11) | Autosomal recessive ataxia, Beauce type |
| GJA1 (6q22.31) |
Autosomal recessive limb-girdle muscular dystrophy type 2F
|
| GJA5 (1q21.2) |
Autosomal recessive limb-girdle muscular dystrophy type 2G
|
| GLA (Xq22.1) |
Autosomal recessive limb-girdle muscular dystrophy type 2I
|
| GPC3 (Xq26.2) |
Autosomal recessive limb-girdle muscular dystrophy type 2J
|
| GPD1L (3p22.3) |
Autosomal recessive limb-girdle muscular dystrophy type 2M
|
| GYG1 (3q24) | Baraitser-Winter syndrome |
| HAMP (19q13.12) | Baraitser-winter syndrome 2 |
| HAND1 (5q33.2) | Bardet-Biedl syndrome |
| HCN4 (15q24.1) | Basal cell carcinoma |
| HFE (6p22.2) | Basal cell carcinoma, susceptibility to, 1 |
| HJV (1q21.1) | Becker muscular dystrophy |
| HRAS (11p15.5) | Beckwith-Wiedemann syndrome |
| ILK (11p15.4) |
Blepharophimosis – intellectual disability syndrome, MKB type
|
| INVS (9q31.1) |
Blepharophimosis – intellectual disability syndrome, SBBYS type
|
| JAG1 (20p12.2) | Brachydactyly |
| JPH2 (20q13.12) | Bradycardia |
| JUP (17q21.2) | Breast neoplasm |
| KAT6B (10q22.2) | Broad forehead |
| KCNA5 (12p13.32) | Broad nasal tip |
| KCND3 (1p13.2) | Brugada syndrome |
| KCNE1 (21q22.12) | Brugada syndrome 1 |
| KCNE2 (21q22.11) | Brugada syndrome 3 |
| KCNE3 (11q13.4) | Brugada syndrome 4 |
| KCNE5 (Xq23) | Brugada syndrome 5 |
| KCNH2 (7q36.1) | Brugada syndrome 6 |
| KCNJ2 (17q24.3) | Brugada syndrome 7 |
| KCNJ5 (11q24.3) | Brugada syndrome 8 |
| KCNJ8 (12p12.1) | CBL-related disorder |
| KCNK3 (2p23.3) | CHARGE syndrome |
| KCNQ1 (11p15.5-15.4) |
Café-au-lait macules with pulmonary stenosis
|
| KCNQ2 (20q13.33) |
Capillary malformation-arteriovenous malformation 1
|
| KCNQ3 (8q24.22) | Carcinoma of colon |
| KCNT1 (9q34.3) | Carcinoma of pancreas |
| KRAS (12p12.1) | Cardiac arrest |
| LAMA4 (6q21) | Cardiac arrhythmia |
| LAMP2 (Xq24) | Cardiac arrhythmia, ankyrin-B-related |
| LDB3 (10q23.2) | Cardiac valvular dysplasia, X-linked |
| LDLR (19p13.2) | Cardio-facio-cutaneous syndrome |
| LDLRAP1 (1p36.11) |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
|
| LEFTY2 (1q42.12) | Cardiofaciocutaneous syndrome 2 |
| LMNA (1q22) | Cardiofaciocutaneous syndrome 3 |
| LZTR1 (22q11.21) | Cardiofaciocutaneous syndrome 4 |
| MAP2K1 (15q22.31) | Cardiomyopathy |
| MAP2K2 (19p13.3) | Cardiomyopathy, familial restrictive, 1 |
| MED12 (Xq13.1) | Cardiomyopathy, familial restrictive, 3 |
| MED13L (12q24.21) |
Carnitine acylcarnitine translocase deficiency
|
| MFAP5 (12p13.31) |
Carnitine palmitoyl transferase 1A deficiency
|
| MIB1 (18q11.2) |
Carnitine palmitoyl transferase II deficiency, myopathic form
|
| MKS1 (17q22) |
Carnitine palmitoyl transferase II deficiency, neonatal form
|
| MMP21 (10q26.2) |
Carnitine palmitoyl transferase II deficiency, severe infantile form
|
| MRPL3 (3q22.1) | Carpal tunnel syndrome |
| MTO1 (6q13) | Cataract 16 multiple types |
| MYBPC3 (11p11.2) |
Catecholaminergic polymorphic ventricular tachycardia
|
| MYH11 (16p13.11) |
Catecholaminergic polymorphic ventricular tachycardia 2
|
| MYH6 (14q11.2) |
Catecholaminergic polymorphic ventricular tachycardia 4
|
| MYH7 (14q11.2) |
Catecholaminergic polymorphic ventricular tachycardia 5
|
| MYL2 (12q24.11) | Cavernous hemangioma |
| MYL3 (3p21.31) | Cerebral calcification |
| MYLK (3q21.1) | Cerebral cortical atrophy |
| MYLK2 (20q11.21) |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
|
| MYOM1 (18p11.31) | Charcot-Marie-Tooth disease type 2B1 |
| MYOZ2 (4q26) | Chiari type II malformation |
| MYPN (10q21.3) |
Childhood onset GLUT1 deficiency syndrome 2
|
| NDUFAF1 (15q15.1) | Chorioretinal coloboma |
| NDUFB11 (Xp11.3) | Choroid plexus papilloma |
| NEBL (10p12.31) | Chronic bronchitis |
| NEK8 (17q11.2) | Classic homocystinuria |
| NEXN (1p31.1) | Clinodactyly of the 5th finger |
| NF1 (17q11.2) | Clonus |
| NKX2-5 (5q35.1) | Coarctation of aorta |
| NKX2-6 (8p21.2) | Coarse hair |
| NME8 (7p14.1) | Cognitive impairment |
| NODAL (10q22.1) |
Cognitive impairment with or without cerebellar ataxia
|
| NOTCH1 (9q34.3) |
Colorectal cancer, hereditary nonpolyposis, type 6
|
| NPHP3 (3q22.1) |
Combined oxidative phosphorylation defect type 17
|
| NPPA (1p36.22) |
Combined oxidative phosphorylation defect type 9
|
| NR2F2 (15q26.2) |
Complement component C1r/C1s deficiency
|
| NRAS (1p13.2) | Complement component C1s deficiency |
| NSD1 (5q35.3) | Congenital contractural arachnodactyly |
| OFD1 (Xp22.2) |
Congenital generalized lipodystrophy type 3
|
| PCDH19 (Xq22.1) | Congenital heart defects, multiple types, 6 |
| PCSK9 (1p32.3) |
Congenital muscular dystrophy due to LMNA mutation
|
| PDLIM3 (4q35.1) |
Congenital myopathy with fiber type disproportion
|
| PKD1L1 (7p12.3) | Congenital ocular coloboma |
| PKP2 (12p11.21) | Conotruncal heart malformations |
| PLN (6q22.31) | Corneal opacity |
| PLOD1 (1p36.22) | Costello syndrome |
| PRDM16 (1p36.32) | Cranial asymmetry |
| PRKAG2 (7q36.1) | Cranial nerve paralysis |
| PRKG1 (10q11.23-21.1) |
Craniometaphyseal dysplasia, autosomal recessive
|
| PRRT2 (16p11.2) | Cryptorchidism |
| PSEN2 (1q42.13) | Curly hair |
| PTPN11 (12q24.13) | Cutis laxa, autosomal dominant 1 |
| RAF1 (3p25.2) | Cutis laxa, autosomal recessive, type 1B |
| RANGRF (17p13.1) | Cystic hygroma |
| RASA1 (5q14.3) | DK1-congenital disorder of glycosylation |
| RBM20 (10q25.2) | Dandy-Walker syndrome |
| RIT1 (1q22) | Danon disease |
| RRAS (19q13.33) | Death in infancy |
| RYR2 (1q43) | Decreased lymphocyte apoptosis |
| SCN10A (3p22.2) | Deep philtrum |
| SCN1A (2q24.3) | Delayed skeletal maturation |
| SCN1B (19q13.11) |
Delayed speech and language development
|
| SCN2B (11q23.3) | Desmin-related myofibrillar myopathy |
| SCN3B (11q24.1) |
Developmental and epileptic encephalopathy, 13
|
| SCN4B (11q23.3) |
Developmental and epileptic encephalopathy, 7
|
| SCN5A (3p22.2) |
Developmental and epileptic encephalopathy, 9
|
| SCN8A (12q13.13) |
Developmental malformations-deafness-dystonia syndrome
|
| SCN9A (2q24.3) | Developmental regression |
| SDHA (5p15.33) | DiGeorge syndrome |
| SGCD (5q33.2-33.3) | Diaphragmatic hernia 3 |
| SHOC2 (10q25.2) | Dilated cardiomyopathy 1A |
| SKI (1p36.33-36.32) | Dilated cardiomyopathy 1AA |
| SLC22A5 (5q31.1) | Dilated cardiomyopathy 1BB |
| SLC25A20 (3p21.31) | Dilated cardiomyopathy 1C |
| SLC2A1 (1p34.2) | Dilated cardiomyopathy 1CC |
| SLC2A10 (20q13.12) | Dilated cardiomyopathy 1D |
| SLC40A1 (2q32.2) | Dilated cardiomyopathy 1DD |
| SLMAP (3p14.3) | Dilated cardiomyopathy 1E |
| SMAD3 (15q22.33) | Dilated cardiomyopathy 1EE |
| SMAD4 (18q21.2) | Dilated cardiomyopathy 1FF |
| SMAD6 (15q22.31) | Dilated cardiomyopathy 1G |
| SMAD9 (13q13.3) | Dilated cardiomyopathy 1GG |
| SNTA1 (20q11.21) | Dilated cardiomyopathy 1HH |
| SOS1 (2p22.1) | Dilated cardiomyopathy 1I |
| SOS2 (14q21.3) | Dilated cardiomyopathy 1II |
| SPRED1 (15q14) | Dilated cardiomyopathy 1J |
| SYNE1 (6q25.2) | Dilated cardiomyopathy 1JJ |
| TAFAZZIN (Xq28) | Dilated cardiomyopathy 1KK |
| TBX1 (22q11.21) | Dilated cardiomyopathy 1L |
| TBX20 (7p14.2) | Dilated cardiomyopathy 1M |
| TBX5 (12q24.21) | Dilated cardiomyopathy 1O |
| TCAP (17q12) | Dilated cardiomyopathy 1P |
| TFR2 (7q22.1) | Dilated cardiomyopathy 1R |
| TGFB2 (1q41) | Dilated cardiomyopathy 1S |
| TGFB3 (14q24.3) | Dilated cardiomyopathy 1T |
| TGFBR1 (9q22.33) | Dilated cardiomyopathy 1V |
| TGFBR2 (3p24.1) | Dilated cardiomyopathy 1W |
| TMEM43 (3p25.1) | Dilated cardiomyopathy 1X |
| TMEM70 (8q21.11) | Dilated cardiomyopathy 1Y |
| TMPO (12q23.1) | Dilated cardiomyopathy 1Z |
| TNNC1 (3p21.1) | Dilated cardiomyopathy 2A |
| TNNI3 (19q13.42) | Dilated cardiomyopathy 2B |
| TNNT2 (1q32.1) | Dilated cardiomyopathy 3B |
| TPM1 (15q22.2) |
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
|
| TRDN (6q22.31) |
Distal myopathy with posterior leg and anterior hand involvement
|
| TRPM4 (19q13.33) | Distal myopathy, Tateyama type |
| TTC8 (14q31.3) | Downslanted palpebral fissures |
| TTN (2q31.2) | Duchenne muscular dystrophy |
| TTR (18q12.1) | Dystonia 9 |
| TXNRD2 (22q11.21) | EEG abnormality |
| VCL (10q22.2) | EMG abnormality |
| YWHAE (17p13.3) |
Early infantile epileptic encephalopathy with suppression bursts
|
| ZFPM2 (8q23.1) |
Early-onset myopathy with fatal cardiomyopathy
|
| ZIC3 (Xq26.3) |
Ectopia lentis 1, isolated, autosomal dominant
|
| Ehlers-Danlos syndrome progeroid type | |
| Ehlers-Danlos syndrome, classic type | |
|
Ehlers-Danlos syndrome, kyphoscoliotic type 1
|
|
| Ehlers-Danlos syndrome, type 3 | |
| Ehlers-Danlos syndrome, type 4 | |
|
Elevated circulating creatine kinase concentration
|
|
|
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
|
|
|
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
|
|
|
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
|
|
| Encephalitis | |
| Encephalopathy due to GLUT1 deficiency | |
|
Encephalopathy, acute, infection-induced, susceptibility to, 4
|
|
| Enlarged thorax | |
| Epicanthus | |
| Epidermal nevus | |
| Epilepsy, familial focal, with variable foci 1 | |
|
Epilepsy, idiopathic generalized, susceptibility to, 12
|
|
| Epileptic encephalopathy | |
| Episodic kinesigenic dyskinesia 1 | |
| Episodic pain syndrome, familial, 2 | |
| Everted lower lip vermilion | |
| FG syndrome 1 | |
| FG syndrome 2 | |
| Fabry disease | |
| Failure to thrive | |
| Familial atrioventricular septal defect | |
| Familial hyperaldosteronism type III | |
| Familial hypercholesterolemia | |
| Familial hypobetalipoproteinemia | |
| Familial hypobetalipoproteinemia 1 | |
|
Familial partial lipodystrophy, Dunnigan type
|
|
| Familial porphyria cutanea tarda | |
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
| Familial type 5 hyperlipoproteinemia | |
| Feeding difficulties in infancy | |
| Focal-onset seizure | |
| Follicular hyperplasia | |
| Fragile site 11b | |
| Friedreich ataxia 1 | |
| Frontal bossing | |
| Frontometaphyseal dysplasia 1 | |
| Full cheeks | |
| Geleophysic dysplasia 2 | |
|
Generalized epilepsy with febrile seizures plus, type 1
|
|
|
Generalized epilepsy with febrile seizures plus, type 2
|
|
|
Generalized epilepsy with febrile seizures plus, type 7
|
|
| Generalized hyperpigmentation | |
| Generalized hypotonia | |
|
Generalized juvenile polyposis/juvenile polyposis coli
|
|
| Genitopatellar syndrome | |
| Genu recurvatum | |
| Gliosis | |
| Global developmental delay | |
| Glycogen storage disease XV | |
| Glycogen storage disease type III | |
| Glycogen storage disease, type II | |
| Heart septal defect | |
| Heart-hand syndrome, Slovenian type | |
| Hemangioma | |
| Hemifacial hypertrophy | |
| Hemimegalencephaly | |
| Hemiplegia/hemiparesis | |
| Hemochromatosis type 1 | |
| Hemochromatosis type 2B | |
| Hemochromatosis type 3 | |
| Hemochromatosis type 4 | |
| Hemolytic anemia | |
| Hepatomegaly | |
| Hereditary disease | |
| Hereditary gingival fibromatosis | |
|
Hereditary nonpolyposis colorectal carcinoma
|
|
|
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
|
|
| Heterotaxy, visceral, 1, X-linked | |
| Heterotaxy, visceral, 4, autosomal | |
|
Heterotopia, periventricular, X-linked dominant
|
|
| High forehead | |
| High palate | |
| Holoprosencephaly sequence | |
| Holt-Oram syndrome | |
| Horseshoe kidney | |
| Hutchinson-Gilford syndrome | |
| Hydrocephalus | |
|
Hypercholesterolemia, autosomal dominant, 3
|
|
|
Hypercholesterolemia, autosomal dominant, type B
|
|
| Hypercholesterolemia, familial, 4 | |
| Hyperextensible skin | |
| Hyperkeratosis | |
| Hyperphosphaturia | |
| Hypertelorism | |
| Hyperthyroxinemia, dystransthyretinemic | |
| Hypertrichosis | |
|
Hypertrichotic osteochondrodysplasia Cantu type
|
|
| Hypertriglyceridemia 1 | |
| Hypertrophic cardiomyopathy | |
| Hypertrophic cardiomyopathy 1 | |
| Hypertrophic cardiomyopathy 10 | |
| Hypertrophic cardiomyopathy 11 | |
| Hypertrophic cardiomyopathy 12 | |
| Hypertrophic cardiomyopathy 13 | |
| Hypertrophic cardiomyopathy 14 | |
| Hypertrophic cardiomyopathy 15 | |
| Hypertrophic cardiomyopathy 16 | |
| Hypertrophic cardiomyopathy 17 | |
| Hypertrophic cardiomyopathy 18 | |
| Hypertrophic cardiomyopathy 19 | |
| Hypertrophic cardiomyopathy 2 | |
| Hypertrophic cardiomyopathy 20 | |
| Hypertrophic cardiomyopathy 25 | |
| Hypertrophic cardiomyopathy 3 | |
| Hypertrophic cardiomyopathy 4 | |
| Hypertrophic cardiomyopathy 6 | |
| Hypertrophic cardiomyopathy 7 | |
| Hypertrophic cardiomyopathy 8 | |
| Hypertrophic cardiomyopathy 9 | |
|
Hypogonadotropic hypogonadism 5 with or without anosmia
|
|
| Hypophosphatemic rickets | |
| Hypopigmentation of the skin | |
| Hypopigmented skin patches | |
| Hypoplasia of the corpus callosum | |
| Hypoplastic left heart syndrome | |
| Hypoplastic left heart syndrome 1 | |
| Hypoplastic left heart syndrome 2 | |
|
Hypothyroidism, congenital, nongoitrous, 5
|
|
| Hypotonia | |
| Ichthyosis | |
| Immotile sperm | |
|
Increased circulating antibody concentration
|
|
| Infantile convulsions and choreoathetosis | |
| Infantile nephronophthisis | |
| Intellectual disability | |
| Intellectual disability, mild | |
|
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
|
|
| Intracranial hemorrhage | |
| Iris coloboma | |
| Irregular hyperpigmentation | |
| Isolated microcephaly | |
| Jervell and Lange-Nielsen syndrome | |
| Jervell and Lange-Nielsen syndrome 2 | |
| Joint hypermobility | |
| Joubert syndrome 10 | |
| Juvenile myelomonocytic leukemia | |
|
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
|
|
| Kartagener syndrome | |
| Keratosis palmoplantaris striata 2 | |
| Keratosis pilaris | |
| Kyphoscoliosis | |
| LEOPARD syndrome 1 | |
| LEOPARD syndrome 2 | |
| LEOPARD syndrome 3 | |
| Large congenital melanocytic nevus | |
| Left ventricular noncompaction | |
| Left ventricular noncompaction 1 | |
| Left ventricular noncompaction 10 | |
|
Left ventricular noncompaction cardiomyopathy
|
|
| Left-right axis malformations | |
| Legius syndrome | |
| Leigh syndrome | |
| Lethal acantholytic epidermolysis bullosa | |
|
Lethal congenital glycogen storage disease of heart
|
|
| Lethal tight skin contracture syndrome | |
| Leukemia | |
| Linear nevus sebaceous syndrome | |
| Lipoatrophy | |
| Loeys-Dietz syndrome 2 | |
| Loeys-Dietz syndrome 4 | |
| Long QT syndrome | |
| Long QT syndrome 1 | |
| Long QT syndrome 10 | |
| Long QT syndrome 11 | |
| Long QT syndrome 12 | |
| Long QT syndrome 13 | |
| Long QT syndrome 2 | |
| Long QT syndrome 3 | |
| Long QT syndrome 5 | |
| Long QT syndrome 6 | |
| Long QT syndrome 9 | |
| Long philtrum | |
| Low posterior hairline | |
| Low-set ears | |
| Low-set, posteriorly rotated ears | |
| Lung adenocarcinoma | |
| Lung carcinoma | |
| Lymphedema | |
| Lymphoma | |
| Lymphoproliferative disorder | |
| MASS syndrome | |
| MYH7-related skeletal myopathy | |
| Macrocephaly | |
| Malar flattening | |
| Male infertility | |
| Malignant tumor of esophagus | |
| Malignant tumor of thyroid gland | |
| Malignant tumor of urinary bladder | |
|
Mandibuloacral dysplasia with type A lipodystrophy
|
|
| Marfan syndrome | |
| Meckel syndrome, type 1 | |
| Melanocytic nevus | |
| Melanoma | |
| Melnick-Needles syndrome | |
| Meningioma | |
| Meningocele | |
| Mental deterioration | |
| Metachondromatosis | |
| Micrognathia | |
| Microphthalmia, syndromic 1 | |
|
Microvascular complications of diabetes, susceptibility to, 7
|
|
| Migraine, familial hemiplegic, 3 | |
| Mitochondrial complex I deficiency | |
|
Mitochondrial complex II deficiency, nuclear type 1
|
|
|
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
|
|
|
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
|
|
| Mitral regurgitation | |
| Mitral stenosis | |
| Mitral valve prolapse | |
| Monocytosis | |
| Moyamoya disease 5 | |
|
Multiple self-healing squamous epithelioma
|
|
|
Multisystemic smooth muscle dysfunction syndrome
|
|
| Muscle weakness | |
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
|
|
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
|
|
|
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
|
|
|
Muscular dystrophy-dystroglycanopathy type B5
|
|
| Myhre syndrome | |
| Myofibrillar myopathy 4 | |
| Myofibrillar myopathy 5 | |
| Myofibrillar myopathy 6 | |
| Myopathy | |
|
Myopathy, myofibrillar, 9, with early respiratory failure
|
|
|
Myopathy, reducing body, X-linked, childhood-onset
|
|
|
Myopathy, reducing body, X-linked, early-onset, severe
|
|
| Myopia | |
| Myosin storage myopathy | |
| NPHP3-related Meckel-like syndrome | |
| Narrow forehead | |
| Narrow nasal ridge | |
| Naxos disease | |
| Neoplasm of stomach | |
| Nephroblastoma | |
| Nephronophthisis 3 | |
| Nephronophthisis 9 | |
| Neurocutaneous melanocytosis | |
| Neurofibromatosis, familial spinal | |
| Neurofibromatosis, type 1 | |
| Neurofibromatosis-Noonan syndrome | |
|
Neurogenic scapuloperoneal syndrome, Kaeser type
|
|
| Neuronal loss in central nervous system | |
| Neutropenia | |
| Nevus sebaceous | |
| Non-immune hydrops fetalis | |
| Non-small cell lung carcinoma | |
| Nonsyndromic otitis media | |
| Noonan syndrome | |
| Noonan syndrome 1 | |
| Noonan syndrome 3 | |
| Noonan syndrome 4 | |
| Noonan syndrome 5 | |
| Noonan syndrome 7 | |
|
Noonan syndrome-like disorder with loose anagen hair 1
|
|
| Numerous congenital melanocytic nevi | |
| Numerous nevi | |
| Nystagmus | |
| Oculodentodigital dysplasia | |
|
Oculodentodigital dysplasia, autosomal recessive
|
|
| Oculofaciocardiodental syndrome | |
| Open mouth | |
| Ophthalmoplegia | |
| Orofaciodigital syndrome I | |
| Osteopenia | |
| Oto-palato-digital syndrome, type I | |
| Oto-palato-digital syndrome, type II | |
| Overgrowth | |
| Palmoplantar keratoderma | |
|
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
|
|
| Pancytopenia | |
| Papillary renal cell carcinoma type 1 | |
| Paragangliomas 5 | |
| Parkes Weber syndrome | |
| Paroxysmal extreme pain disorder | |
|
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
|
|
| Pectus carinatum | |
| Pectus excavatum | |
| Periorbital fullness | |
| Personality disorder | |
| Plagiocephaly | |
| Polyhydramnios | |
| Porencephalic cyst | |
| Precocious puberty | |
| Primary ciliary dyskinesia | |
| Primary ciliary dyskinesia 10 | |
| Primary ciliary dyskinesia 13 | |
| Primary ciliary dyskinesia 14 | |
| Primary ciliary dyskinesia 15 | |
| Primary ciliary dyskinesia 16 | |
| Primary ciliary dyskinesia 17 | |
| Primary ciliary dyskinesia 2 | |
| Primary ciliary dyskinesia 3 | |
| Primary ciliary dyskinesia 6 | |
| Primary ciliary dyskinesia 7 | |
| Primary ciliary dyskinesia 9 | |
| Primary dilated cardiomyopathy | |
| Primary erythromelalgia | |
|
Primary familial hypertrophic cardiomyopathy
|
|
| Progressive | |
| Progressive familial heart block type IB | |
| Progressive familial heart block, type 1A | |
| Prolonged PR interval | |
| Prominence of the premaxilla | |
| Prominent forehead | |
| Prominent occiput | |
| Proptosis | |
| Prostate cancer, hereditary, 2 | |
| Pruritus | |
| Psychotic disorder | |
| Ptosis | |
| Pulmonary arterial hypertension | |
| Pulmonary hypertension, primary, 1 | |
| Pulmonary hypertension, primary, 2 | |
| Pulmonary hypertension, primary, 3 | |
| Pulmonary venoocclusive disease 1 | |
| Pulmonic stenosis | |
| RASopathy | |
| Radioulnar synostosis | |
| Recurrent fractures | |
| Recurrent otitis media | |
| Recurrent respiratory infections | |
| Recurrent sinusitis | |
| Reduced eye contact | |
| Reduced tendon reflexes | |
| Relative macrocephaly | |
| Defecto del transporte renal de carnitina | |
| Hipoplasia/aplasia renal | |
| Displasia renal-hepático-pancreática 1 | |
| Displasia renal-hepático-pancreática 2 | |
| Insuficiencia respiratoria | |
|
Insuficiencia respiratoria debido a un aclaramiento ciliar defectuoso
|
|
| Retinosis pigmentaria 23 | |
| Retinosis pigmentaria 51 | |
| Rinitis | |
| Síndrome de Rienhoff | |
| Isomería auricular derecha | |
| Bloqueo de rama derecha del haz de His | |
| Enfermedad del músculo ondulante 2 | |
| cara redonda | |
|
Schwannomatosis relacionada con SMARCB1
|
|
|
SÍNDROME DE MUERTE SÚBITA DEL LACTANTE
|
|
| Sarcoma | |
| Escoliosis | |
| Escoliosis aislada, susceptibilidad a, 3 | |
| Convulsión | |
|
Convulsiones neonatales benignas familiares, 1
|
|
|
Convulsiones neonatales benignas familiares, 2
|
|
|
Trastorno de pérdida auditiva neurosensorial
|
|
| Epilepsia mioclónica grave en la infancia | |
| Síndrome de QT corto tipo 1 | |
| Síndrome de QT corto tipo 2 | |
| Síndrome de QT corto tipo 3 | |
| Cuello corto | |
| Nariz corta | |
| Síndrome de Shprintzen-Goldberg | |
| Síndrome del seno enfermo 1 | |
|
Síndrome del seno enfermo 2, autosómico dominante
|
|
|
Síndrome del seno enfermo 3, susceptibilidad a
|
|
|
Síndrome de Simpson-Golabi-Behmel tipo 1
|
|
|
Síndrome de Simpson-Golabi-Behmel tipo 2
|
|
| Situs inversus | |
| Síndrome de Sotos | |
| Cejas dispersas y finas | |
| Espasticidad | |
| Ataxia espinocerebelosa tipo 19/22 | |
| Esplenomegalia | |
| Estado epiléptico | |
| Síndrome de piel rígida | |
| Estrabismo, susceptibilidad a | |
| Muerte súbita cardíaca | |
| Estenosis aórtica supravalvular | |
| Síncope | |
| Sindactilia tipo 3 | |
| Siringomielia | |
|
LOCUS DE RASGO CUANTITATIVO DE NIVEL SÉRICO DE TRANSFERRINA 2
|
|
|
Telangiectasia hemorrágica hereditaria tipo 1
|
|
|
Telangiectasia hemorrágica hereditaria tipo 2
|
|
| Telecanto | |
|
Síndrome de displasia ósea terminal-defectos pigmentarios
|
|
|
Anomalías testiculares con o sin cardiopatía congénita
|
|
| Tetralogía de Fallot | |
| Tetraplejia | |
| Labio inferior grueso bermellón | |
| Pliegue cutáneo nucal engrosado | |
| Piel engrosada | |
| Aneurisma de la aorta torácica | |
| Tromboflebitis | |
| Cáncer de tiroides no medular, 2 | |
| distrofia muscular tibial | |
| Síndrome de Timothy | |
|
Carcinoma de células transicionales de vejiga
|
|
|
Transposición de las grandes arterias, dextro-asas
|
|
| Cara triangular | |
| carcinoma de vejiga urinaria | |
| Leiomiosarcoma uterino | |
|
Asociación VACTERL, ligada al cromosoma X, con o sin hidrocefalia
|
|
| Porfiria variegada | |
| Síndrome velocardiofacial | |
| fibrilación ventricular | |
|
Fibrilación ventricular paroxística familiar tipo 1
|
|
| Defecto del tabique ventricular | |
| Defecto del tabique ventricular 1 | |
| Defecto del tabique ventricular 3 | |
| Defecto de segmentación vertebral | |
| Vértigo | |
|
Deficiencia de acil-CoA deshidrogenasa de cadena muy larga
|
|
|
Distrofia muscular congénita de Walker-Warburg
|
|
| Cuello palmeado | |
|
Síndrome de Weill-Marchesani 2, dominante
|
|
| Síndrome de Williams | |
| Patrón de Wolff-Parkinson-White | |
|
Síndrome de fragilidad de la piel y el cabello lanoso
|
|
|
Distrofia muscular de Emery-Dreifuss ligada al cromosoma X
|
|
|
Discapacidad intelectual ligada al cromosoma X con hábito marfanoide
|
|
|
Miopatía ligada al cromosoma X con atrofia muscular postural
|
|
|
Distrofia muscular escapuloperoneal ligada al cromosoma X
|
Panel Retinopatías
Este estudio incluye 496 genes asociados a más de 1,210 condiciones.
$17,100 MN
Panel Retinopatías
Tabla de genes y condiciones
| GENES | CONDICIONES |
| ABCA4 (1p22.1) | Abetalipoproteinemia |
| ABCB6 (2q35) | Aciduria 3-metilglutacónica tipo 1 |
| ABCC6 (16p13.11) | Aciduria 3-metilglutacónica tipo 3 |
| ABCD1 (Xq28) | Aciduria 3-metilglutacónica, tipo VIIB |
| ABHD12 (20p11.21) | Acondrogénesis tipo II |
| ACBD5 (10p12.1) | Acromatopsia |
| ACO2 (22q13.2) | Acromatopsia 2 |
| ACTB (7p22.1) | Acromatopsia 3 |
| ACVR1 (2q24.1) | Acromatopsia 4 |
| ADAM9 (8p11.22) | Acromatopsia 7 |
| ADAMTS18 (16q23.1) | Adrenoleucodistrofia |
| ADGRA3 (4p15.2) | Agenesia dental |
| ADGRV1 (5q14.3) | Albinismo oculocutáneo tirosinasa positivo |
| ADIPOR1 (1q32.1) | Alucinación visual |
| AGBL1 (15q25.3) | Ambliopía |
| AGBL5 (2p23.3) | Amiloidosis ABri |
| AGK (7q34) | Amiloidosis ADan |
| AHI1 (6q23.3) | Amiloidosis hereditaria sistémica 1 |
| AHR (7p21.1) | Aminoaciduria |
| AIPL1 (17p13.2) | Aniridia 1 |
| ALDH1A3 (15q26.3) | Anoftalmia |
| ALMS1 (2p13.1) | Anormalidad de la densidad mineral ósea |
| AMACR (5p13.2) |
Anormalidad de la función motora extrapiramidal
|
| ARHGEF18 (19p13.2) | Anormalidad de la laringe |
| ARL13B (3q11.1-11.2) | Anormalidad de la pigmentación de la retina |
| ARL2BP (16q13) | Anormalidad de la pigmentación macular |
| ARL3 (10q24.32) |
Anormalidad de los potenciales evocados visuales
|
| ARL6 (3q11.2) | Anormalidad del bazo |
| ARMC9 (2q37.1) | Anormalidad del eje hipotálamo-hipofisario |
| ARSG (17q24.2) | Anormalidad del hígado |
| ASRGL1 (11q12.3) | Anormalidad del movimiento ocular |
| ATF6 (1q23.3) | Apatía |
| ATOH7 (10q21.3) |
Aplasia/Hipoplasia de los lóbulos de las orejas
|
| ATXN7 (3p14.1) | Aplasia/hipoplasia de los pulmones |
| AUH (9q22.31) | Aplasia/hipoplasia del cerebelo |
| B9D1 (17p11.2) | Aplasia/Hipoplasia del cuerpo calloso |
| B9D2 (19q13.2) | Aplasia/hipoplasia del páncreas |
| BAÑERA (11p15.4) | Aplasia/hipoplasia que afecta al ojo |
| BBIP1 (10q25.2) | Apnea |
| BBS1 (11q13.2) | Apnea, sueño central |
| BBS10 (12q21.2) | Arqueamiento tibial |
| BBS12 (4q27) | Asphyxiating thoracic dystrophy 5 |
| BBS2 (16q13) | Astigmatismo |
| BBS4 (15q24.1) |
Ataxia – discapacidad intelectual – apraxia oculomotora – síndrome de quistes cerebelosos
|
| BBS5 (2q31.1) | Ataxia cerebelosa abortiva |
| BBS7 (4q27) | Ataxia espinocerebelosa tipo 34 |
| BBS9 (7p14.3) |
Ataxia-hypogonadism-choroidal dystrophy syndrome
|
| BCOR (Xp11.4) |
Atrioventricular septal defect and common atrioventricular junction
|
| BEST1 (11q12.3) | Atrophia bulborum hereditaria |
| BFSP1 (20p12.1) | Attenuation of retinal blood vessels |
| BFSP2 (3q22.1) | Atypical scarring of skin |
| BMP4 (14q22.2) | Auditory hallucination |
| BMP7 (20q13.31) | Autism |
| C12orf57 (12p13.31) |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
|
| C1QTNF5 (11q23.3) | Autosomal dominant inheritance |
| CA4 (17q23.1) | Autosomal dominant keratitis |
| CABP4 (11q13.2) |
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
|
| CACNA1F (Xp11.23) |
Autosomal dominant nonsyndromic hearing loss 11
|
| CACNA2D4 (12p13.33) |
Autosomal dominant nonsyndromic hearing loss 13
|
| CANT1 (17q25.3) |
Autosomal dominant nonsyndromic hearing loss 3A
|
| CAPN5 (11q13.5) |
Autosomal dominant nonsyndromic hearing loss 3B
|
| CAV1 (7q31.2) |
Autosomal dominant nonsyndromic hearing loss 6
|
| CC2D2A (4p15.32) |
Autosomal dominant optic atrophy classic form
|
| CCT2 (12q15) | Autosomal dominant osteopetrosis 1 |
| CDH23 (10q22.1) |
Autosomal dominant vitreoretinochoroidopathy
|
| CDH3 (16q22.1) | Autosomal recessive bestrophinopathy |
| CDHR1 (10q23.1) |
Autosomal recessive early-onset Parkinson disease 6
|
| CEP164 (11q23.3) |
Autosomal recessive inherited pseudoxanthoma elasticum
|
| CEP19 (3q29) |
Autosomal recessive limb-girdle muscular dystrophy type 2K
|
| CEP250 (20q11.22) |
Autosomal recessive limb-girdle muscular dystrophy type 2O
|
| CEP290 (12q21.32) |
Autosomal recessive nonsyndromic hearing loss 12
|
| CEP41 (7q32.2) |
Autosomal recessive nonsyndromic hearing loss 18A
|
| CEP78 (9q21.2) |
Autosomal recessive nonsyndromic hearing loss 1A
|
| CEP83 (12q22) |
Autosomal recessive nonsyndromic hearing loss 1B
|
| CERKL (2q31.3) |
Autosomal recessive nonsyndromic hearing loss 2
|
| CFAP410 (21q22.3) |
Autosomal recessive nonsyndromic hearing loss 23
|
| CFAP418 (8q22.1) |
Autosomal recessive nonsyndromic hearing loss 31
|
| CFH (1q31.3) |
Autosomal recessive nonsyndromic hearing loss 48
|
| CHD7 (8q12.2) |
Autosomal recessive nonsyndromic hearing loss 53
|
| CHM (Xq21.2) |
Autosomal recessive nonsyndromic hearing loss 77
|
| CHMP4B (20q11.22) |
Autosomal recessive optic atrophy, OPA7 type
|
| CHN1 (2q31.1) |
Autosomal recessive proximal renal tubular acidosis
|
| CHST6 (16q23.1) | Autosomal recessive spinocerebellar ataxia 7 |
| CIB2 (15q25.1) |
Avascular necrosis of femoral head, primary, 1
|
| CISD2 (4q24) | Avellino corneal dystrophy |
| CLCC1 (1p13.3) | Axenfeld-Rieger syndrome type 1 |
| CLDN19 (1p34.2) | Axenfeld-Rieger syndrome type 3 |
| CLN3 (16p12.1) | Axial spondylometaphyseal dysplasia |
| CLN5 (13q22.3) | Babinski sign |
| CLN6 (15q23) | Baraitser-Winter syndrome |
| CLN8 (8p23.3) | Bardet-Biedl syndrome |
| CLPB (11q13.4) | Bardet-Biedl syndrome 1 |
| CLRN1 (3q25.1) | Bardet-Biedl syndrome 10 |
| CLUAP1 (16p13.3) | Bardet-Biedl syndrome 11 |
| CNGA1 (4p12) | Bardet-Biedl syndrome 12 |
| CNGA3 (2q11.2) | Bardet-Biedl syndrome 13 |
| CNGB1 (16q21) | Bardet-Biedl syndrome 14 |
| CNGB3 (8q21.3) | Bardet-Biedl syndrome 15 |
| CNNM4 (2q11.2) | Bardet-Biedl syndrome 16 |
| COL11A1 (1p21.1) | Bardet-Biedl syndrome 17 |
| COL11A2 (6p21.32) | Bardet-Biedl syndrome 18 |
| COL17A1 (10q25.1) | Bardet-Biedl syndrome 19 |
| COL18A1 (21q22.3) | Bardet-Biedl syndrome 2 |
| COL2A1 (12q13.11) | Bardet-biedl syndrome 21 |
| COL4A1 (13q34) | Bardet-Biedl syndrome 3 |
| COL5A1 (9q34.3) | Bardet-Biedl syndrome 4 |
| COL8A2 (1p34.3) | Bardet-Biedl syndrome 5 |
| COL9A1 (6q13) | Bardet-Biedl syndrome 7 |
| COL9A2 (1p34.2) | Bardet-Biedl syndrome 8 |
| COL9A3 (20q13.33) | Bardet-Biedl syndrome 9 |
| CPLANE1 (5p13.2) | Basal laminar drusen |
| CRB1 (1q31.3) | Bell-shaped thorax |
| CRPPA (7p21.2) | Bicornuate uterus |
| CRX (19q13.33) | Bietti crystalline corneoretinal dystrophy |
| CRYAA (21q22.3) | Bifid tongue |
| CRYAB (11q23.1) |
Blepharophimosis, ptosis, and epicanthus inversus syndrome
|
| CRYBA1 (17q11.2) | Blindness |
| CRYBA2 (2q35) | Blue color blindness |
| CRYBA4 (22q12.1) | BNAR syndrome |
| CRYBB1 (22q12.1) | Boca abierta de forma triangular |
| CRYBB2 (22q11.23) |
Bone mineral density quantitative trait locus 1
|
| CRYBB3 (22q11.23) | Bone osteosarcoma |
| CRYGB (2q33.3) |
Bosch-Boonstra-Schaaf optic atrophy syndrome
|
| CRYGC (2q33.3) | Bothnia retinal dystrophy |
| CRYGD (2q33.3) | Brachycephaly |
| CRYGS (3q27.3) | Brachydactyly |
| CSPP1 (8q13.1-13.2) | Bradyopsia |
| CTDP1 (18q23) |
Brain small vessel disease 1 with or without ocular anomalies
|
| CTNNA1 (5q31.2) | Brainstem dysplasia |
| CTNNB1 (3p22.1) | Branchiooculofacial syndrome |
| CTSD (11p15.5) | Branchiootic syndrome 1 |
| CTSF (11q13.2) | Branchiootorenal syndrome 1 |
| CWC27 (5q12.3) | Brittle cornea syndrome 1 |
| CYP1B1 (2p22.2) | Brittle cornea syndrome 2 |
| CYP4V2 (4q35.1-35.2) | Brittle hair |
| DCN (12q21.33) | Broad nasal tip |
| DGKQ (4p16.3) | Bulbar palsy |
| DHDDS (1p36.11) |
Calcificación arterial generalizada de la infancia, 2
|
| DHX38 (16q22.2) | Camptodactyly |
| DNAJC5 (20q13.33) | Camptodactyly of finger |
| DRAM2 (1p13.3) | Cantidad anormal de cabello |
| DTHD1 (4p14) | Cardiomyopathy |
| EFEMP1 (2p16.1) | Carpal tunnel syndrome |
| ELOVL4 (6q14.1) | Cataract |
| EMC1 (1p36.13) | Cataract 1 multiple types |
| EPHA2 (1p36.13) | Cataract 10 multiple types |
| ERCC1 (19q13.32) | Cataract 11 multiple types |
| ERCC2 (19q13.32) | Cataract 12 multiple types |
| ERCC5 (13q33.1) | Cataract 14 multiple types |
| ERCC6 (10q11.23) | Cataract 15 multiple types |
| EXOSC2 (9q34.12) | Cataract 16 multiple types |
| EYA1 (8q13.3) | Cataract 17 multiple types |
| EYS (6q12) | Cataract 18 |
| FAM161A (2p15) | Cataract 19 multiple types |
| FLVCR1 (1q32.3) | Cataract 2, multiple types |
| FOXC1 (6p25.3) | Cataract 20 multiple types |
| FOXE3 (1p33) | Cataract 21 multiple types |
| FOXL2 (3q22.3) | Cataract 22 multiple types |
| FRAS1 (4q21.21) | Cataract 23 |
| FREM1 (9p22.3) | Cataract 3 multiple types |
| FREM2 (13q13.3) | Cataract 30 |
| FRMD7 (Xq26.2) | Cataract 31 multiple types |
| FSCN2 (17q25.3) | Cataract 33 |
| FTL (19q13.33) | Cataract 36 |
| FYCO1 (3p21.31) | Cataract 38 |
| FZD4 (11q14.2) | Cataract 39 multiple types |
| GALK1 (17q25.1) | Cataract 40 |
| GCNT2 (6p24.3-24.2) | Cataract 41 |
| GDF3 (12p13.31) | Cataract 5 multiple types |
| GDF6 (8q22.1) | Cataract 6 multiple types |
| GFER (16p13.3) | Cataract 9 multiple types |
| GJA1 (6q22.31) | Catarata aculeiforme |
| GJA3 (13q12.11) | Cerebellar atrophy |
| GJA8 (1q21.2) |
Cerebellar atrophy, visual impairment, and psychomotor retardation;
|
| GJB2 (13q12.11) | Cerebellar cyst |
| GJB6 (13q12.11) | Cerebellar dysplasia |
| GLI2 (2q14.2) | Cerebellar vermis hypoplasia |
| GNAT1 (3p21.31) | Cerebral atrophy |
| GNAT2 (1p13.3) | Cerebral cortical atrophy |
| GNB3 (12p13.31) | Cerebrooculofacioskeletal syndrome 1 |
| GNPTG (16p13.3) | Cerebrooculofacioskeletal syndrome 2 |
| GPR143 (Xp22.2) | Cerebrooculofacioskeletal syndrome 4 |
| GPR179 (17q12) | Ceroid lipofuscinosis, neuronal, 6A |
| GRIP1 (12q14.3) | Charcot-Marie-Tooth disease type 2A2 |
| GRK1 (13q34) | Charcot-Marie-Tooth disease type 4B2 |
| GRM6 (5q35.3) | Charcot-Marie-Tooth disease type 4G |
| GRN (17q21.31) |
Charcot-Marie-Tooth disease X-linked recessive 5
|
| GSN (9q33.2) |
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
|
| GUCA1A (6p21.1) | CHARGE syndrome |
| GUCA1B (6p21.1) | Chilblain lupus 1 |
| GUCY2D (17p13.1) | Childhood-onset truncal obesity |
| HARS1 (5q31.3) | CHIME syndrome |
| HCCS (Xp22.2) | Choanal atresia |
| HCN1 (5p12) | Chorioretinal atrophy |
| HESX1 (3p14.3) | Chorioretinal coloboma |
| HGSNAT (8p11.21-11.1) | Chorioretinal dysplasia |
| HK1 (10q22.1) | Choroidal dystrophy, central areolar 2 |
| HMCN1 (1q25.3-31.1) | Choroidal dystrophy, central areolar, 1 |
| HMX1 (4p16.1) | Choroideremia |
| HOXA1 (7p15.2) | Chronic kidney disease |
| HOXB1 (17q21.32) | Cleft palate |
| HSF4 (16q22.1) | Cleft upper lip |
| HYCC1 (7p15.3) | Clinodactyly |
| IARS2 (1q41) | Clinodactyly of the 5th finger |
| IDH3A (15q25.1) | COACH syndrome 1 |
| IDH3B (20p13) | Cobalamin C disease |
| IFT140 (16p13.3) | Cockayne syndrome type 2 |
| IFT172 (2p23.3) | Cognitive impairment |
| IFT27 (22q12.3) | Cohen syndrome |
| IFT43 (14q24.3) | Coloboma of optic nerve |
| IFT80 (3q25.33) |
Coloboma uveal-labio y paladar hendido-discapacidad intelectual
|
| IFT81 (12q24.11) | Coloboma, ocular, autosomal dominant |
| IGBP1 (Xq13.1) | Coloboma, ocular, autosomal recessive |
| IKBKG (Xq28) |
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
|
| IMPDH1 (7q32.1) | Color vision defect |
| IMPG1 (6q14.1) |
Combined oxidative phosphorylation defect type 7
|
| IMPG2 (3q12.3) |
Complex cortical dysplasia with other brain malformations 1
|
| INPP5E (9q34.3) | comportamiento agresivo |
| INVS (9q31.1) | Condrodisplasia punctata rizomélica tipo 1 |
| IQCB1 (3q13.33) | Condrodisplasia punctata rizomélica tipo 5 |
| ITM2B (13q14.2) | Conductive hearing impairment |
| JAG1 (20p12.2) | Cone dystrophy |
| JAM3 (11q25) | Cone dystrophy 3 |
| Juego de rol (Xp11.4) | Cone dystrophy 4 |
| KCNJ13 (2q37.1) |
Cone dystrophy with supernormal rod response
|
| KCNV2 (9p24.2) | Cone-rod dystrophy |
| KCTD7 (7q11.21) | Cone-rod dystrophy 10 |
| KERA (12q21.33) | Cone-rod dystrophy 11 |
| KIAA0586 (14q23.1) | Cone-rod dystrophy 12 |
| KIAA1549 (7q34) | Cone-rod dystrophy 13 |
| KIF11 (10q23.33) | Cone-rod dystrophy 15 |
| KIF21A (12q12) | Cone-rod dystrophy 16 |
| KIF7 (15q26.1) | Cone-rod dystrophy 18 |
| KIZ (20p11.23) | Cone-rod dystrophy 19 |
| KLHL7 (7p15.3) | Cone-rod dystrophy 2 |
| KRT12 (17q21.2) | Cone-rod dystrophy 20 |
| KRT3 (12q13.13) | Cone-rod dystrophy 21 |
| LAMA1 (18p11.31) | Cone-rod dystrophy 3 |
| LCA5 (6q14.1) | Cone-rod dystrophy 5 |
| LCAT (16q22.1) | Cone-rod dystrophy 6 |
| LEMD2 (6p21.31) | Cone-rod dystrophy 7 |
| LIM2 (19q13.41) | Cone-rod dystrophy 9 |
| LMX1B (9q33.3) | Cone-rod dystrophy and hearing loss 1 |
| LOXHD1 (18q21.1) | Cone-rod dystrophy and hearing loss 2 |
| LOXL1 (15q24.1) |
Cone-rod synaptic disorder, congenital nonprogressive
|
| LRAT (4q32.1) |
Cone-shaped epiphyses of the phalanges of the hand
|
| LRIT3 (4q25) | Cone-shaped epiphysis |
| LRP2 (2q31.1) | Congenital bile acid synthesis defect 4 |
| LRP5 (11q13.2) |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
|
| LSS (21q22.3) |
Congenital cataracts-facial dysmorphism-neuropathy syndrome
|
| LTBP2 (14q24.3) | Congenital diaphragmatic hernia |
| LZTFL1 (3p21.31) |
Congenital fibrosis of extraocular muscles type 1
|
| MAB21L2 (4q31.3) | Congenital generalized lipodystrophy type 3 |
| MAF (16q23.2) | Congenital hepatic fibrosis |
| MAK (6p24.2) |
Congenital hereditary endothelial dystrophy of cornea
|
| MAPKAPK3 (3p21.2) | Congenital hip dislocation |
| MEJOR1 (11q12.3) |
Congenital hypotrichosis with juvenile macular dystrophy
|
| MERTK (2q13) |
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
|
| MFN2 (1p36.22) | Congenital laryngomalacia |
| MFRP (11q23.3) | Congenital ocular coloboma |
| MFSD8 (4q28.2) | Congenital primary aphakia |
| MIP (12q13.3) |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
|
| MIR184 (15q25.1) | Congenital stationary night blindness |
| MITF (3p13) | Congenital stationary night blindness 1A |
| MKKS (20p12.2) | Congenital stationary night blindness 1B |
| MKS1 (17q22) | Congenital stationary night blindness 1C |
| MMACHC (1p34.1) | Congenital stationary night blindness 1D |
| MPDZ (9p23) | Congenital stationary night blindness 1E |
| MSMO1 (4q32.3) | Congenital stationary night blindness 1F |
| MTPAP (10p11.23) | Congenital stationary night blindness 1G |
| MTRFR (12q24.31) | Congenital stationary night blindness 1H |
| MTTP (4q23) | Congenital stationary night blindness 2A |
| MVK (12q24.11) |
Congenital stationary night blindness autosomal dominant 1
|
| MYO7A (11q13.5) |
Congenital stationary night blindness autosomal dominant 2
|
| MYOC (1q24.3) |
Congenital stationary night blindness autosomal dominant 3
|
| NAA10 (Xq28) | Congenital stromal corneal dystrophy |
| NDP (Xp11.3) | Constriction of peripheral visual field |
| NDUFS1 (2q33.3) | Convex nasal ridge |
| NEK2 (1q32.3) | Cornea plana 2 |
| NEUROD1 (2q31.3) | Corneal dystrophy |
| NGLY1 (3p24.2) |
Corneal dystrophy-perceptive deafness syndrome
|
| NHS (Xp22.2-22.13) | Corneal dystrophy, Fuchs endothelial, 1 |
| NMNAT1 (1p36.22) | Corneal dystrophy, Fuchs endothelial, 4 |
| NPHP1 (2q13) | Corneal dystrophy, Fuchs endothelial, 6 |
| NPHP3 (3q22.1) | Corneal dystrophy, lattice type 3A |
| NPHP4 (1p36.31) | Corneal dystrophy, Meesmann, 1 |
| NR2E3 (15q23) | Corneal opacity |
| NR2F1 (5q15) |
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
|
| NRL (14q11.2-12) | Coxa vara |
| NTF4 (19q13.33) | Cranioectodermal dysplasia 3 |
| NYX (Xp11.4) | Cranioectodermal dysplasia 4 |
| OAT (10q26.13) |
Craniofacial anomalies and anterior segment dysgenesis syndrome
|
| OCA2 (15q12-13.1) |
Craniometaphyseal dysplasia, autosomal recessive
|
| OCRL (Xq26.1) | Cryptorchidism |
| OFD1 (Xp22.2) | Cupped ribs |
| OPA1 (3q29) |
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
|
| OPA3 (19q13.32) | DE SANCTIS-CACCHIONE SYNDROME |
| OPN1SW (7q32.1) | Deafness dystonia syndrome |
| OPTN (10p13) |
Deafness, congenital heart defects, and posterior embryotoxon
|
| OR2W3 (1q44) | Decreased body weight |
| OTX2 (14q22.3) | Decreased circulating antibody concentration |
| OVOL2 (20p11.23) | Decreased corneal thickness |
| P3H2 (3q28) | Decreased muscle mass |
| PANK2 (20p13) |
Decreased response to growth hormone stimulation test
|
| PAX2 (10q24.31) | Decreased testicular size |
| PAX6 (11p13) | Deeply set eye |
| PCARE (2p23.2) | defecto del campo visual |
| PCDH15 (10q21.1) | Defecto del tabique ventricular |
| PCYT1A (3q29) | Deficiencia de alfa-metilacil-CoA racemasa |
| PDE6A (5q32) |
deficiencia de la hormona del crecimiento con baja estatura
|
| PDE6B (4p16.3) | Deficiency of galactokinase |
| PDE6C (10q23.33) |
Degeneración macular relacionada con la edad 1
|
| PDE6D (2q37.1) |
Degeneración macular relacionada con la edad 2
|
| PDE6G (17q25.3) |
Degeneración macular relacionada con la edad 4
|
| PDE6H (12p12.3) |
Degeneración macular relacionada con la edad 5
|
| PDZD7 (10q24.31) |
Degeneración macular relacionada con la edad 6
|
| PEX1 (7q21.2) |
Degeneración vítreorretiniana en copo de nieve
|
| PEX10 (1p36.32) | Delayed speech and language development |
| PEX11B (1q21.1) | Dementia |
| PEX12 (17q12) | Dent disease type 2 |
| PEX13 (2p15) | Dental malocclusion |
| PEX14 (1p36.22) |
Deposición de material osmiófilo granular vascular
|
| PEX16 (11p11.2) | Depressed nasal bridge |
| PEX19 (1q23.2) | Depressed nasal ridge |
| PEX2 (8q21.13) | Depression |
| PEX26 (22q11.21) | Desbuquois dysplasia 1 |
| PEX3 (6q24.2) |
Developmental and epileptic encephalopathy, 24
|
| PEX5 (12p13.31) | Developmental cataract |
| PEX6 (6p21.1) |
Developmental delay and seizures with or without movement abnormalities
|
| PEX7 (6q23.3) |
Developmental malformations-deafness-dystonia syndrome
|
| PGAP1 (2q33.1) | Developmental regression |
| PGK1 (Xq21.1) | Diabetes mellitus tipo 2 |
| PHOX2A (11q13.4) | Dientes muy espaciados |
| PHYH (10p13) | Dilated cardiomyopathy 1II |
| PIGL (17p11.2) | Dilated fourth ventricle |
| PIKFYVE (2q34) | Discapacidad visual |
| PITPNM3 (17p13.2-13.1) | Disgenesia del segmento anterior 1 |
| PITX2 (4q25) | Disgenesia del segmento anterior 3 |
| PITX3 (10q24.32) | Disgenesia del segmento anterior 4 |
| PLA2G5 (1p36.13) | Disgenesia del segmento anterior 7 |
| PLK4 (4q28.1) | Disinhibited behavior |
| PNPLA6 (19p13.2) |
Displasia espondiloepifisaria con acortamiento de los metatarsianos
|
| POC1B (12q21.33) | Displasia espondiloepifisaria congénita |
| POLG (15q26.1) | Displasia espondiloepifisaria tipo Stanescu |
| POMGNT1 (1p34.1) | Displasia espondilometafisaria |
| POMT1 (9q34.13) | Displasia espondilometafisaria tipo Sutcliffe |
| PORCN (Xp11.23) | Displasia espondiloperiférica |
| PPT1 (1p34.2) | Displasia torácica |
| PQBP1 (Xp11.23) |
Displasia torácica de costilla corta 10 con o sin polidactilia
|
| PRCD (17q25.1) |
Displasia torácica de costilla corta 14 con polidactilia
|
| PRDM13 (6q16.2) |
Displasia torácica de costilla corta 18 con polidactilia
|
| PRDM5 (4q27) |
Displasia torácica de costilla corta 19 con o sin polidactilia
|
| PRKCG (19q13.42) | Distal sensory impairment |
| PROM1 (4p15.32) | Distrofia corneal de Thiel-Behnke |
| PRPF3 (1q21.2) |
Distrofia de conos y bastones ligada al cromosoma X 1
|
| PRPF31 (19q13.42) |
Distrofia de conos y bastones ligada al cromosoma X 3
|
| PRPF4 (9q32) | Distrofia del fondo de ojo de Sorsby |
| PRPF6 (20q13.33) | Distrofia macular viteliforme |
| PRPF8 (17p13.3) | Distrofia macular viteliforme 2 |
| PRPH2 (6p21.1) | Distrofia macular viteliforme 4 |
| PRPS1 (Xq22.3) | Distrofia macular viteliforme 5 |
| PRSS56 (2q37.1) |
Distrofia muscular congénita de Walker-Warburg
|
| PXDN (2p25.3) |
Distrofia retiniana grave de inicio en la infancia temprana
|
| RAB18 (10p12.1) | Distrofia torácica asfixiante 1 |
| RAB28 (4p15.33) | Distrofia torácica asfixiante 2 |
| RAB3GAP1 (2q21.3) | Distrofia torácica asfixiante 4 |
| RAB3GAP2 (1q41) | Distrofia torácica asfixiante 5 |
| RARB (3p24.2) |
Distrofia viteliforme foveomacular de inicio en la edad adulta
|
| RAX (18q21.32) | Donnai-Barrow syndrome |
| RAX2 (19p13.3) | Downslanted palpebral fissures |
| RB1 (13q14.2) | Doyne honeycomb retinal dystrophy |
| RBP3 (10q11.22) | Duane retraction syndrome 2 |
| RBP4 (10q23.33) | Duane-radial ray syndrome |
| RCBTB1 (13q14.2) | Duodenal atresia |
| RD3 (1q32.3) | Dysarthria |
| RDH11 (14q24.1) | Dyschromatosis universalis hereditaria 3 |
| RDH12 (14q24.1) | Dysgenesis of the cerebellar vermis |
| RDH5 (12q13.2) | Dysphagia |
| REEP6 (19p13.3) | Dyssynergia |
| RERE (1p36.23) | EEM syndrome |
| RGR (10q23.1) | Ehlers-Danlos syndrome, classic type |
| RGS9 (17q24.1) | Electrorretinograma anormal |
| RGS9BP (19q13.11) | Electrorretinograma indetectable |
| RHO (3q22.1) | Elongated superior cerebellar peduncle |
| RIMS1 (6q13) | Encephalocele |
| RLBP1 (15q26.1) | Enfermedad de Stargardt 3 |
| ROBO3 (11q24.2) | Enfermedad de Stargardt 4 |
| ROM1 (11q12.3) | Enfermedad de Van Buchem tipo 2 |
| RP1 (8q11.23-12.1) | Enfermedad de Worth |
| RP1L1 (8p23.1) | Enfermedad ocular de las islas Åland |
| RP2 (Xp11.3) | Enhanced S-cone syndrome |
| RP9 (7p14.3) | Enlarged fossa interpeduncularis |
| RPE65 (1p31.3) | Epicanthus |
| RPGRIP1 (14q11.2) | Epiphyseal dysplasia, multiple, 2 |
| RPGRIP1L (16q12.2) | Epiphyseal dysplasia, multiple, 3 |
| RRM2B (8q22.3) | Epiphyseal dysplasia, multiple, 6 |
| RS1 (Xp22.13) | Episodic tachypnea |
| RTN4IP1 (6q21) | Epithelial basement membrane dystrophy |
| SAG (2q37.1) | esclerosis lateral amiotrófica |
| SALL2 (14q11.2) | Esclerosis lateral amiotrófica tipo 12 |
| SALL4 (20q13.2) | Esotropia |
| SAMD11 (1p36.33) | Essential hypertension |
| SBF2 (11p15.4) | Exotropia |
| SCLT1 (4q28.2) | External genital hypoplasia |
| SDCCAG8 (1q43-44) | Exudative vitreoretinopathy 1 |
| SEMA3E (7q21.11) | Exudative vitreoretinopathy 2, X-linked |
| SEMA4A (1q22) | Exudative vitreoretinopathy 4 |
| SH3PXD2B (5q35.1) | Exudative vitreoretinopathy 5 |
| SHH (7q36.3) | Exudative vitreoretinopathy 6 |
| SIL1 (5q31.2) | Facial palsy |
| SIPA1L3 (19q13.13-13.2) | Factor H deficiency |
| SIX3 (2p21) | Familial aplasia of the vermis |
| SIX6 (14q23.1) | Familial benign flecked retina |
| SLC16A12 (10q23.31) | Familial exudative vitreoretinopathy |
| SLC24A1 (15q22.31) | Familial isolated deficiency of vitamin E |
| SLC25A46 (5q22.1) | Familial porencephaly |
| SLC33A1 (3q25.31) | Fasciculations |
| SLC45A2 (5p13.2) | Febrile seizures, familial, 4 |
| SLC4A11 (20p13) | Feeding difficulties |
| SLC4A4 (4q13.3) | Feeding difficulties in infancy |
| SLC4A7 (3p24.1) | Femoral bowing |
| SLC7A14 (3q26.2) | Fetal growth restriction |
| SMOC1 (14q24.2) | Fibrochondrogenesis 1 |
| SNRNP200 (2q11.2) | Fibrochondrogenesis 2 |
| SOX2 (3q26.33) | Fibrosis of extraocular muscles, congenital, 2 |
| SOX5 (12p12.1) |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
|
| SPATA7 (14q31.3) | Finger syndactyly |
| SPG7 (16q24.3) |
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
|
| SPP2 (2q37.1) | Finnish type amyloidosis |
| SRD5A3 (4q12) | Fish-eye disease |
| STRA6 (15q24.1) | Fístula urogenital |
| TACSTD2 (1p32.1) | Fisura palpebral inclinada hacia arriba |
| TBC1D20 (20p13) | Fleck corneal dystrophy |
| TBK1 (12q14.2) | Flexion contracture |
| TCF4 (18q21.2) | Focal dermal hypoplasia |
| TCTN1 (12q24.11) | Focal segmental glomerulosclerosis 7 |
| TCTN2 (12q24.31) | Foot polydactyly |
| TCTN3 (10q24.1) | Forma facial anormal |
| TDRD7 (9q22.33) | Foveal hypoplasia 1 |
| TEAD1 (11p15.3) | Frank-Ter Haar syndrome |
| TENM3 (4q34.3-35.1) | Fraser syndrome 1 |
| TFAP2A (6p24.3) | Frenillo oral accesorio |
| TGFBI (5q31.1) | Frontoparietal polymicrogyria |
| TGIF1 (18p11.31) | Frontotemporal dementia |
| TIMM8A (Xq22.1) |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
|
| TIMP3 (22q12.3) | Fuchs’ endothelial dystrophy |
| TMEM107 (17p13.1) | Gait disturbance |
| TMEM126A (11q14.1) |
Gaze palsy, familial horizontal, with progressive scoliosis 1
|
| TMEM138 (11q12.2) | Gelatinous droplike corneal dystrophy |
| TMEM216 (11q12.2) | Genu valgum |
| TMEM231 (16q23.1) | Genu varum |
| TMEM237 (2q33.1) | Gillespie syndrome |
| TMEM67 (8q22.1) | Glaucoma |
| TOPORS (9p21.1) | Glaucoma 1, open angle, A |
| TPP1 (11p15.4) | Glaucoma 1, open angle, G |
| TRAF3IP1 (2q37.3) | Glaucoma 1, open angle, O |
| TREX1 (3p21.31) | Glaucoma 3, primary congenital, D |
| TRIM32 (9q33.1) | Glaucoma 3, primary infantile, B |
| TRNT1 (3p26.2) | Glaucoma 3A |
| TRPM1 (15q13.3) | Glaucoma, normal tension, susceptibility to |
| TSPAN12 (7q31.31) | Global developmental delay |
| TTC21B (2q24.3) | Glucose intolerance |
| TTC8 (14q31.3) |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
|
| TTLL5 (14q24.3) | GNPTG-mucolipidosis |
| TTPA (8q12.3) |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
|
| TTR (18q12.1) | Groenouw corneal dystrophy type I |
| TUBB3 (16q24.3) | Growth delay |
| TUBGCP4 (15q15.3) | Hamartoma of tongue |
| TUBGCP6 (22q13.33) | Hand polydactyly |
| TULP1 (6p21.31) | Hearing impairment |
| TYR (11q14.3) | Hearing loss, autosomal dominant 37 |
| TYRP1 (9p23) | Hearing loss, autosomal recessive 57 |
| UBIAD1 (1p36.22) | Hearing loss, X-linked 1 |
| UNC119 (17q11.2) |
Heart defect – tongue hamartoma – polysyndactyly syndrome
|
| UNC45B (17q12) | Heimler syndrome 1 |
| USH1C (11p15.1) | Heimler syndrome 2 |
| USH1G (17q25.1) |
Helicoid peripapillary chorioretinal degeneration
|
| USH2A (1q41) | Hemeralopia |
| VAX1 (10q25.3) | Hemifacial spasm |
| VCAN (5q14.2-14.3) |
Hemolytic anemia due to hexokinase deficiency
|
| VIM (10p13) |
Hemolytic uremic syndrome, atypical, susceptibility to, 1
|
| VPS13B (8q22.2) | hemorragia vítrea |
| VSX1 (20p11.21) | Hemorrhage, intracerebral, susceptibility to |
| VSX2 (14q24.3) | Hepatocellular carcinoma |
| WDPCP (2p15) | Hepatomegaly |
| WDR19 (4p14) | Hereditary disease |
| WDR36 (5q22.1) | Hereditary glaucoma, primary closed-angle |
| WFS1 (4p16.1) |
Hereditary hyperferritinemia with congenital cataracts
|
| WHRN (9q32) |
Hereditary motor and sensory neuropathy with optic atrophy
|
| YAP1 (11q22.1) | Hereditary spastic paraplegia 39 |
| ZEB1 (10p11.22) | Hereditary spastic paraplegia 42 |
| ZIC2 (13q32.3) | Hereditary spastic paraplegia 7 |
| ZNF408 (11p11.2) | Hernia of the abdominal wall |
| ZNF423 (16q12.1) | Hidrotic ectodermal dysplasia syndrome |
| ZNF469 (16q24.2) | High myopia |
| ZNF513 (2p23.3) | High palate |
| ZNF469 (16q24.2) | Highly arched eyebrow |
| Hipoplasia torácica | |
| Hirsutism | |
| Holoprosencephaly 2 | |
| Holoprosencephaly 3 | |
| Holoprosencephaly 4 | |
| Holoprosencephaly 5 | |
| Holoprosencephaly 9 | |
| Horseshoe kidney | |
| Human HOXA1 syndromes | |
| Huppke-Brendel syndrome | |
| Hydrocephalus | |
|
Hydrocephalus, nonsyndromic, autosomal recessive 2
|
|
| Hydrolethalus syndrome 2 | |
| Hyperactivity | |
| Hyperimmunoglobulin D with periodic fever | |
| Hyperinsulinemia | |
| Hyperlordosis | |
| Hypermetropia | |
| Hypertelorism | |
| Hypertensive disorder | |
| Hyperthyroxinemia, dystransthyretinemic | |
| Hypertonia | |
| Hypertrichosis | |
| Hyphema | |
| Hypochromic microcytic anemia | |
| Hypogonadism | |
|
Hypogonadotropic hypogonadism 5 with or without anosmia
|
|
| Hypomyelination and Congenital Cataract | |
| Hypoplasia of penis | |
| Hypoplasia of scrotum | |
| Hypoplasia of the brainstem | |
| Hypoplasia of the corpus callosum | |
| Hypoplastic inferior ilia | |
| Hypoplastic left atrium | |
| Hypoplastic left heart syndrome 1 | |
| Hypoplastic toenails | |
|
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
|
|
| Hyporeflexia | |
| Hyposmia | |
| Hypospadias | |
| Hypotonia | |
| Ichthyosis, hystrix-like, with hearing loss | |
| Idiopathic CD4 lymphocytopenia | |
| Impaired smooth pursuit | |
| Incoordination | |
|
Increased neuronal autofluorescent lipopigment
|
|
| Infantile cerebellar-retinal degeneration | |
| Infantile nephronophthisis | |
| Intellectual disability | |
| Intellectual disability, moderate | |
| Intellectual disability, severe | |
| Intervertebral disc disorder | |
| Irido-corneo-trabecular dysgenesis | |
| Iris coloboma | |
| Isolated hereditary congenital facial paralysis | |
| Isolated microcephaly | |
| Isolated microphthalmia 2 | |
| Isolated microphthalmia 3 | |
| Isolated microphthalmia 4 | |
| Isolated microphthalmia 5 | |
| Isolated microphthalmia 6 | |
| Isolated microphthalmia 7 | |
| Isolated optic nerve hypoplasia | |
| Jalili syndrome | |
| Jeune thoracic dystrophy | |
| Joint dislocation | |
| Joint hypermobility | |
| Joint laxity | |
| Joint stiffness | |
| Joubert syndrome 1 | |
| Joubert syndrome 10 | |
| Joubert syndrome 13 | |
| Joubert syndrome 14 | |
| Joubert syndrome 15 | |
| Joubert syndrome 16 | |
| Joubert syndrome 17 | |
| Joubert syndrome 18 | |
| Joubert syndrome 2 | |
| Joubert syndrome 20 | |
| Joubert syndrome 21 | |
| Joubert syndrome 22 | |
| Joubert syndrome 23 | |
| Joubert syndrome 24 | |
| Joubert syndrome 27 | |
| Joubert syndrome 28 | |
| Joubert syndrome 3 | |
| Joubert syndrome 30 | |
| Joubert syndrome 35 | |
| Joubert syndrome 5 | |
| Joubert syndrome 6 | |
| Joubert syndrome 7 | |
| Joubert syndrome 8 | |
| Joubert syndrome 9 | |
| Joubert syndrome with renal defect | |
|
Junctional epidermolysis bullosa, non-Herlitz type
|
|
|
Juvenile cataract-microcornea-renal glucosuria syndrome
|
|
| Juvenile retinoschisis | |
| Kahrizi syndrome | |
| Keratoconus 1 | |
| Kidney damage | |
| Klippel-Feil syndrome 1, autosomal dominant | |
| Klippel-Feil syndrome 3, autosomal dominant | |
| Kniest dysplasia | |
| Knobloch syndrome | |
|
Knuckle pads, deafness AND leukonychia syndrome
|
|
| Kyphoscoliosis | |
| Kyphosis | |
| L-ferritin deficiency | |
| Lactic acidosis | |
| Language disorder | |
| Large hyperpigmented retinal spots | |
| Late-onset retinal degeneration | |
| Lattice corneal dystrophy Type I | |
| Laurence-Moon syndrome | |
| LCAT deficiency | |
| Leber congenital amaurosis 1 | |
| Leber congenital amaurosis 10 | |
| Leber congenital amaurosis 11 | |
| Leber congenital amaurosis 12 | |
| Leber congenital amaurosis 13 | |
| Leber congenital amaurosis 14 | |
| Leber congenital amaurosis 15 | |
| Leber congenital amaurosis 16 | |
| Leber congenital amaurosis 17 | |
| Leber congenital amaurosis 2 | |
| Leber congenital amaurosis 3 | |
| Leber congenital amaurosis 4 | |
| Leber congenital amaurosis 5 | |
| Leber congenital amaurosis 6 | |
| Leber congenital amaurosis 7 | |
| Leber congenital amaurosis 8 | |
| Leber congenital amaurosis 9 | |
| Legg-Calve-Perthes disease | |
| Leigh syndrome | |
| Lens subluxation | |
| Lesiones maculares de tipo viteliforme | |
| Leukocoria | |
| Limitation of joint mobility | |
|
Linear skin defects with multiple congenital anomalies 1
|
|
| Lipofuscinosis ceroidea neuronal adulta | |
| Liver failure | |
| Lobulación pulmonar anormal | |
| Lobulated tongue | |
| Localización anormal del riñón | |
| Long face | |
| Long philtrum | |
| Long QT syndrome | |
| Low anterior hairline | |
| Low-set ears | |
| Low-set, posteriorly rotated ears | |
| Lowe syndrome | |
| Lung carcinoma | |
| Lupus eritematoso sistémico | |
| Macrocephaly | |
| Macroglossia | |
| Macrotia | |
| Macular atrophy | |
| Macular corneal dystrophy | |
| Macular degeneration, X-linked atrophic | |
| Macular dystrophy | |
| Malar flattening | |
| Malformation of the heart and great vessels | |
| Malignant tumor of urinary bladder | |
| Marinesco-Sjögren syndrome | |
| Marshall syndrome | |
| Martsolf syndrome | |
| Matthew-Wood syndrome | |
| Maturity-onset diabetes of the young type 6 | |
| McKusick-Kaufman syndrome | |
| Meckel syndrome 13 | |
| Meckel syndrome, type 1 | |
| Meckel syndrome, type 10 | |
| Meckel syndrome, type 11 | |
| Meckel syndrome, type 2 | |
| Meckel syndrome, type 3 | |
| Meckel syndrome, type 4 | |
| Meckel syndrome, type 5 | |
| Meckel syndrome, type 6 | |
| Meckel syndrome, type 8 | |
| Meckel syndrome, type 9 | |
| Medial flaring of the eyebrow | |
| Median cleft upper lip | |
| Megacolon | |
| MELANESIAN BLOND HAIR | |
|
Melanoma, cutaneous malignant, susceptibility to, 8
|
|
| Metabolic syndrome X | |
|
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
|
|
| Metaphyseal cupping | |
| Metaphyseal irregularity | |
| Metaphyseal widening | |
| Mevalonic aciduria | |
| Microcephaly and chorioretinopathy 1 | |
| Microcephaly and chorioretinopathy 2 | |
| Microcephaly and chorioretinopathy 3 | |
|
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
|
|
| Microcornea | |
| Microcornea-myopic chorioretinal atrophy | |
| Microftalmia sindrómica tipo 5 | |
| Micrognathia | |
| Micromelia | |
| Micropenis | |
| Microphthalmia | |
|
Microphthalmia with brain and digit anomalies
|
|
| Microphthalmia with limb anomalies | |
| Microphthalmia, isolated, with coloboma 10 | |
| Microphthalmia, isolated, with coloboma 3 | |
| Microphthalmia, isolated, with coloboma 5 | |
| Microphthalmia, isolated, with coloboma 6 | |
| Microphthalmia, isolated, with coloboma 7 | |
| Microphthalmia, syndromic 1 | |
| Microphthalmia, syndromic 11 | |
| Microsíndrome de Warburg | |
| Microsíndrome de Warburg 1 | |
| Microsíndrome de Warburg 2 | |
| Microsíndrome de Warburg 3 | |
| Microspherophakia | |
| Midface retrusion | |
| Miopatía sarcotubular | |
| Mitochondrial complex I deficiency | |
| Mitochondrial DNA depletion syndrome 1 | |
|
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
|
|
| Mitochondrial DNA depletion syndrome 4b | |
| Mitochondrial DNA depletion syndrome 8a | |
| Moderately reduced visual acuity | |
| Molar tooth sign on MRI | |
| Morfología anormal de la clavícula | |
| Morfología anormal de la hélice | |
| Morfología anormal de la metáfisis | |
|
Morfología anormal de la neurona motora inferior
|
|
|
Morfología anormal de la sustancia blanca periventricular
|
|
| Morfología anormal de las pestañas | |
|
Morfología anormal de los genitales externos femeninos
|
|
|
Morfología anormal de los genitales internos femeninos
|
|
| Morfología anormal de los túbulos renales | |
| Morfología anormal del esmalte dental | |
| Morfología anormal del esternón | |
| Morfología anormal del hueso de la cadera | |
|
Morfología anormal del hueso de la cintura pélvica
|
|
| Morfología anormal del pabellón auricular | |
| Morfología anormal del paladar | |
| Morfología anormal del pie | |
| Morfología costal anormal | |
| Morfología macular anormal | |
| Morfología metacarpiana anormal | |
| Morfología testicular anormal | |
| Morfología vascular retiniana anormal | |
| MORM syndrome | |
| Motor delay | |
| Movimientos oculares sacádicos anormales | |
| Mucopolysaccharidosis, MPS-III-C | |
| Multicystic kidney dysplasia | |
| Multiple congenital anomalies | |
| Multiple epiphyseal dysplasia, Al-Gazali type | |
| Multiple epiphyseal dysplasia, Beighton type | |
| Multiple synostoses syndrome 4 | |
| Muscle eye brain disease | |
| Muscular atrophy | |
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
|
|
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
|
|
|
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
|
|
|
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
|
|
| Mutilating keratoderma | |
| Mutism | |
| Myoclonus | |
| Myopia | |
|
Myopia, high, with cataract and vitreoretinal degeneration
|
|
| Nail-patella syndrome | |
| Namaqualand hip dysplasia | |
| Nance-Horan syndrome | |
| Nanophthalmos 2 | |
| Narinas antevertidas | |
| Narrow chest | |
| Narrow face | |
| Narrow forehead | |
| Narrow greater sciatic notch | |
| Narrow mouth | |
| Neonatal breathing dysregulation | |
| Neonatal hypotonia | |
| Nephrocalcinosis | |
| Nephronophthisis | |
| Nephronophthisis 1 | |
| Nephronophthisis 11 | |
| Nephronophthisis 12 | |
| Nephronophthisis 13 | |
| Nephronophthisis 14 | |
| Nephronophthisis 15 | |
| Nephronophthisis 18 | |
| Nephronophthisis 3 | |
| Nephronophthisis 4 | |
| Nephrotic syndrome | |
|
Neurodevelopmental disorder with visual defects and brain anomalies
|
|
| Neuroferritinopathy | |
| Neuronal ceroid lipofuscinosis | |
| Neuronal ceroid lipofuscinosis 1 | |
| Neuronal ceroid lipofuscinosis 10 | |
| Neuronal ceroid lipofuscinosis 11 | |
| Neuronal ceroid lipofuscinosis 2 | |
| Neuronal ceroid lipofuscinosis 3 | |
| Neuronal ceroid lipofuscinosis 5 | |
| Neuronal ceroid lipofuscinosis 7 | |
| Neuronal ceroid lipofuscinosis 8 | |
|
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
|
|
| Neutropenia | |
| Newfoundland cone-rod dystrophy | |
| Night blindness | |
| Night blindness, congenital stationary, type1i | |
| nódulos en la lengua | |
| NPHP3-related Meckel-like syndrome | |
| Nystagmus | |
| Nystagmus 1, congenital, X-linked | |
| Nystagmus 6, congenital, X-linked | |
| Obesidad troncal | |
| Obesity | |
| Obesity due to CEP19 deficiency | |
| Occipital myelomeningocele | |
| Occult macular dystrophy | |
|
Ocular albinism with congenital sensorineural hearing loss
|
|
| Ocular albinism, type I | |
| Oculoauricular syndrome | |
| Oculocutaneous albinism type 1A | |
| Oculocutaneous albinism type 1B | |
| Oculocutaneous albinism type 3 | |
| Oculocutaneous albinism type 4 | |
| Oculodentodigital dysplasia | |
|
Oculodentodigital dysplasia, autosomal recessive
|
|
| Oculofaciocardiodental syndrome | |
| Oculomotor apraxia | |
| Oculootoradial syndrome | |
| Oculotrichoanal syndrome | |
| Ogden syndrome | |
| Oguchi disease | |
| Oguchi disease-2 | |
| Oligohydramnios | |
| Ophthalmoparesis | |
| Optic atrophy | |
|
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
|
|
| Optic atrophy 3 | |
| Optic atrophy 9 | |
|
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
|
|
| Optic disc pallor | |
| Optic nerve hypoplasia | |
| Ornithine aminotransferase deficiency | |
| Orofacial cleft | |
| Orofacial cleft 11 | |
| Orofacial-digital syndrome IV | |
| Orofaciodigital syndrome 16 | |
| Orofaciodigital syndrome I | |
| Orofaciodigital syndrome type 6 | |
| Osteopenia | |
| Osteoporosis with pseudoglioma | |
| Otofaciocervical syndrome 1 | |
|
Otospondylomegaepiphyseal dysplasia, autosomal dominant
|
|
|
Otospondylomegaepiphyseal dysplasia, autosomal recessive
|
|
| Ovarian neoplasm | |
| Ovoid vertebral bodies | |
|
Palmoplantar keratoderma-deafness syndrome
|
|
| Páncreas anular | |
|
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
|
|
| Patrón de habla anormal | |
| Patterned macular dystrophy 1 | |
| Patterned macular dystrophy 2 | |
| Patterned macular dystrophy 3 | |
| Pectus excavatum | |
| Pendular nystagmus | |
| PERCHING syndrome | |
|
Pérdida auditiva mixta ligada al cromosoma X con derrame perilinfático
|
|
| pérdida visual | |
| Peripheral neuropathy | |
| Peripheral vitreoretinal degeneration | |
|
Peroxisome biogenesis disorder 10A (Zellweger)
|
|
| Peroxisome biogenesis disorder 10B | |
|
Peroxisome biogenesis disorder 11A (Zellweger)
|
|
| Peroxisome biogenesis disorder 11B | |
|
Peroxisome biogenesis disorder 12A (Zellweger)
|
|
|
Peroxisome biogenesis disorder 13A (Zellweger)
|
|
| Peroxisome biogenesis disorder 14B | |
|
Peroxisome biogenesis disorder 1A (Zellweger)
|
|
| Peroxisome biogenesis disorder 1B | |
|
Peroxisome biogenesis disorder 2A (Zellweger)
|
|
| Peroxisome biogenesis disorder 2B | |
|
Peroxisome biogenesis disorder 3A (Zellweger)
|
|
|
Peroxisome biogenesis disorder 4A (Zellweger)
|
|
| Peroxisome biogenesis disorder 4B | |
|
Peroxisome biogenesis disorder 5A (Zellweger)
|
|
| Peroxisome biogenesis disorder 5B | |
|
Peroxisome biogenesis disorder 6A (Zellweger)
|
|
| Peroxisome biogenesis disorder 6B | |
|
Peroxisome biogenesis disorder 7A (Zellweger)
|
|
| Peroxisome biogenesis disorder 7B | |
|
Peroxisome biogenesis disorder 8A (Zellweger)
|
|
| Peroxisome biogenesis disorder 8B | |
| Peroxisome biogenesis disorder 9B | |
| Peroxisome biogenesis disorder type 3B | |
| Persistent hyperplastic primary vitreous | |
|
Persistent hyperplastic primary vitreous, autosomal recessive
|
|
| Persistent pupillary membrane | |
| Personality changes | |
| Pes cavus | |
| Pes planus | |
| PHARC syndrome | |
|
Phosphoribosylpyrophosphate synthetase superactivity
|
|
| Photophobia | |
| Phthisis bulbi | |
| Phytanic acid storage disease | |
|
PIGMENTACIÓN DE PIEL/CABELLO/OJOS 1, OJOS AZULES/NO AZULES
|
|
|
PIGMENTACIÓN DE PIEL/CABELLO/OJOS 3, PIEL CLARA/OSCURA
|
|
|
PIGMENTACIÓN DE PIEL/CABELLO/OJOS 5, CABELLO NEGRO/NO NEGRO
|
|
| Pigmentary pallidal degeneration | |
| Pigmentary retinal dystrophy | |
|
Pigmented paravenous retinochoroidal atrophy
|
|
| Pilomatrixoma | |
| Pitt-Hopkins syndrome | |
| Pituitary adenoma 5, multiple types | |
| Pituitary hormone deficiency, combined, 6 | |
| Platyspondylic dysplasia, Torrance type | |
| Pointed chin | |
| Polycystic kidney disease | |
|
Polycystic liver disease 4 with or without kidney cysts
|
|
| Polycystic ovaries | |
| Polydactyly | |
| Polydactyly of a biphalangeal thumb | |
| Porencephalic cyst | |
|
Porencephaly-microcephaly-bilateral congenital cataract syndrome
|
|
|
Porokeratosis 3, disseminated superficial actinic type
|
|
| Postaxial foot polydactyly | |
| Postaxial hand polydactyly | |
|
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
|
|
|
Posterior column ataxia-retinitis pigmentosa syndrome
|
|
| Posterior polymorphous corneal dystrophy | |
| Posterior polymorphous corneal dystrophy 2 | |
| Posterior polymorphous corneal dystrophy 3 | |
| Posterior retinal neovascularization | |
| Posterior subcapsular cataract | |
| Posterior synechiae of the anterior chamber | |
| Posterior vitreous detachment | |
| Posteriorly rotated ears | |
| Postmenopausal osteoporosis | |
| Precocious puberty | |
| Premature ovarian failure 3 | |
| Prematurely aged appearance | |
| Primary adrenocortical insufficiency | |
| Primary open angle glaucoma | |
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
|
|
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
|
|
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
|
|
| Progressive myoclonic epilepsy type 3 | |
| Progressive myositis ossificans | |
|
Progressive retinal dystrophy due to retinol transport defect
|
|
| Progressive sclerosing poliodystrophy | |
| Progressive visual loss | |
| Proliferative vitreoretinopathy | |
| Prominent forehead | |
| Prominent nasal bridge | |
| Prominent nose | |
| Proptosis | |
| Protruding tongue | |
| Pseudoexfoliation glaucoma | |
| Pseudoxanthoma elasticum, forme fruste | |
| Ptosis | |
| Puente nasal ancho | |
| Pulmonary hypertension, primary, 3 | |
| Pulmonary hypoplasia | |
| RCBTB1-related retinopathy | |
|
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
|
|
| Recurrent infections | |
| Recurrent otitis media | |
| Recurrent respiratory infections | |
| Reduced visual acuity | |
| Reflujo vesicoureteral | |
| Reis-Bucklers’ corneal dystrophy | |
| Renal coloboma syndrome | |
| Renal cyst | |
| Renal hypodysplasia/aplasia 1 | |
|
Renal hypomagnesemia 5 with ocular involvement
|
|
| Renal hypoplasia | |
| Renal hypoplasia/aplasia | |
| Renal insufficiency | |
| Renal-hepatic-pancreatic dysplasia 1 | |
| Renpenning syndrome | |
| Respiratory insufficiency | |
| Retinal atrophy | |
| Retinal cone dystrophy 3A | |
| Retinal cone dystrophy 4 | |
| Retinal degeneration | |
| Retinal detachment | |
| Retinal disorder | |
| Retinal dysplasia | |
| Retinal dystrophy | |
| Retinal dystrophy and obesity | |
| Retinal dystrophy with leukodystrophy | |
|
Retinal dystrophy with or without macular staphyloma
|
|
| Retinal fold | |
| Retinal macular dystrophy type 2 | |
| Retinal nonattachment | |
| Retinal thinning | |
|
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
|
|
| Retinitis pigmentosa | |
| Retinitis pigmentosa 1 | |
| Retinitis pigmentosa 10 | |
| Retinitis pigmentosa 11 | |
| Retinitis pigmentosa 12 | |
| Retinitis pigmentosa 13 | |
| Retinitis pigmentosa 14 | |
| Retinitis pigmentosa 17 | |
| Retinitis pigmentosa 18 | |
| Retinitis pigmentosa 19 | |
| Retinitis pigmentosa 2 | |
| Retinitis pigmentosa 20 | |
| Retinitis pigmentosa 23 | |
| Retinitis pigmentosa 25 | |
| Retinitis pigmentosa 26 | |
| Retinitis pigmentosa 27 | |
| Retinitis pigmentosa 28 | |
| Retinitis pigmentosa 3 | |
| Retinitis pigmentosa 30 | |
| Retinitis pigmentosa 31 | |
| Retinitis pigmentosa 32 | |
| Retinitis pigmentosa 33 | |
| Retinitis pigmentosa 35 | |
| Retinitis pigmentosa 36 | |
| Retinitis pigmentosa 37 | |
| Retinitis pigmentosa 38 | |
| Retinitis pigmentosa 39 | |
| Retinitis pigmentosa 4 | |
| Retinitis pigmentosa 40 | |
| Retinitis pigmentosa 41 | |
| Retinitis pigmentosa 42 | |
| Retinitis pigmentosa 43 | |
| Retinitis pigmentosa 44 | |
| Retinitis pigmentosa 45 | |
| Retinitis pigmentosa 46 | |
| Retinitis pigmentosa 47 | |
| Retinitis pigmentosa 48 | |
| Retinitis pigmentosa 49 | |
| Retinitis pigmentosa 50 | |
| Retinitis pigmentosa 51 | |
| Retinitis pigmentosa 54 | |
| Retinitis pigmentosa 55 | |
| Retinitis pigmentosa 56 | |
| Retinitis pigmentosa 57 | |
| Retinitis pigmentosa 58 | |
| Retinitis pigmentosa 59 | |
| Retinitis pigmentosa 60 | |
| Retinitis pigmentosa 61 | |
| Retinitis pigmentosa 62 | |
| Retinitis pigmentosa 66 | |
| Retinitis pigmentosa 67 | |
| Retinitis pigmentosa 68 | |
| Retinitis pigmentosa 69 | |
| Retinitis pigmentosa 7 | |
| Retinitis pigmentosa 70 | |
| Retinitis pigmentosa 71 | |
| Retinitis pigmentosa 72 | |
| Retinitis pigmentosa 9 | |
| Retinitis pigmentosa con o sin situs inversus | |
|
Retinitis pigmentosa y microcitosis eritrocítica
|
|
|
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
|
|
| Retinoblastoma | |
| Retinosis pigmentaria 73 | |
| Retinosis pigmentaria 74 | |
| Retinosis pigmentaria 75 | |
| Retinosis pigmentaria 76 | |
| Retinosis pigmentaria 77 | |
| Retinosis pigmentaria 78 | |
| Retinosis pigmentaria 79 | |
| Retinosis pigmentaria 80 | |
| Retinosis pigmentaria 81 | |
| Retinosis pigmentaria 83 | |
| Retinosis pigmentaria 84 | |
| Retinosis pigmentaria 85 | |
| Retinosis pigmentaria 86 | |
|
Retinosis pigmentaria 87 con afectación coroidea
|
|
| Retinosis pigmentaria 88 | |
| Retrognathia | |
| Rhizomelia | |
| Rhizomelic chondrodysplasia punctata type 1 | |
| RHYNS syndrome | |
| Ring dermoid of cornea | |
| Saldino-Mainzer syndrome | |
| Sandal gap | |
| Sarcotubular myopathy | |
| Schizencephaly | |
| Schnyder crystalline corneal dystrophy | |
| Sclerocornea | |
| Scoliosis | |
| Scoliosis, isolated, susceptibility to, 3 | |
| Secondary microcephaly | |
| Seizure | |
| Self-mutilation | |
| Sengers syndrome | |
| Senior-Loken syndrome 1 | |
| Senior-Loken syndrome 4 | |
| Senior-Loken syndrome 5 | |
| Senior-Loken syndrome 6 | |
| Senior-Loken syndrome 7 | |
| Sensorimotor neuropathy | |
| Sensorineural hearing loss disorder | |
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
|
| Septo-optic dysplasia sequence | |
|
Severe early-childhood-onset retinal dystrophy
|
|
|
Severe intellectual disability-progressive spastic diplegia syndrome
|
|
| Severe platyspondyly | |
| Shallow anterior chamber | |
| Short finger | |
| Short long bone | |
| Short metacarpal | |
| Short neck | |
| Short nose | |
| Short philtrum | |
| Short ribs | |
| Short thorax | |
| Short tibia | |
| Short toe | |
| Sideroblastic anemia | |
| Signo piramidal anormal | |
| Simplified gyral pattern | |
| Simpson-Golabi-Behmel syndrome type 2 | |
| Sindactilia de los dedos del pie | |
| Síndrome acrocalloso | |
| Síndrome de Aicardi-Goutieres 1 | |
|
Síndrome de Alagille debido a una mutación puntual JAG1
|
|
| Síndrome de Alstrom | |
| Síndrome de anoftalmia-microftalmia | |
|
Síndrome de anoftalmia/microftalmia-atresia esofágica
|
|
|
Síndrome de ataxia-hipogonadismo-distrofia coroidea
|
|
|
Síndrome de displasia espondilometafisaria-distrofia de conos y bastones
|
|
| Síndrome de las artes | |
| Síndrome de monosomía parcial 11p | |
|
Síndrome de retinosis pigmentaria, catarata juvenil, baja estatura y discapacidad intelectual
|
|
|
Síndrome de retinosis pigmentaria, pérdida auditiva, envejecimiento prematuro, baja estatura y dismorfia facial.
|
|
| Síndrome de Saldino-Mainzer | |
| Síndrome de Senior-Loken 1 | |
| Síndrome de Senior-Loken 4 | |
| Síndrome de Senior-Loken 5 | |
| Síndrome de Senior-Loken 6 | |
| Síndrome de Senior-Loken 7 | |
| Síndrome de Senior-Loken 8 | |
| Síndrome de Senior-Loken 9 | |
| Síndrome de sensibilidad a los rayos UV 1 | |
| Síndrome de Simpson-Golabi-Behmel tipo 2 | |
| Síndrome de Stickler tipo 1 | |
| Síndrome de Stickler tipo 2 | |
| Síndrome de Stickler, tipo 4 | |
| Síndrome de Stickler, tipo 5 | |
|
Síndrome de Stickler, tipo I, ocular no sindrómico
|
|
| Síndrome de Tietz | |
|
Síndrome de tricomegalia-degeneración pigmentaria de la retina-enanismo
|
|
| Síndrome de Usher tipo 1 | |
| Síndrome de Usher tipo 1C | |
| Síndrome de Usher tipo 1D | |
| Síndrome de Usher tipo 1F | |
| Síndrome de Usher tipo 1G | |
| Síndrome de Usher tipo 1J | |
| Síndrome de Usher tipo 2A | |
| Síndrome de Usher tipo 2C | |
| Síndrome de Usher tipo 2D | |
| Síndrome de Usher tipo 3 | |
| Síndrome de Usher tipo 3A | |
| Síndrome de Usher tipo 3B | |
| Síndrome de Usher, tipo 4 | |
| Síndrome de Waardenburg tipo 2A | |
| Síndrome de Wagner | |
| Síndrome de Weill-Marchesani 3 | |
| Síndrome de Wolfram | |
| Síndrome de Wolfram 1 | |
| Síndrome de Wolfram 2 | |
| Síndrome tipo wolframio | |
| Situs inversus | |
| Skeletal dysplasia | |
| Sloping forehead | |
| Small cell lung carcinoma | |
| Smooth philtrum | |
| Snowflake vitreoretinal degeneration | |
|
Solitary median maxillary central incisor syndrome
|
|
| sordera neurosensorial parcial | |
| Sorsby fundus dystrophy | |
| Spastic ataxia 4 | |
| Spastic tetraplegia | |
| Spasticity | |
| Spinal canal stenosis | |
| Spinocerebellar ataxia 7 | |
| Spinocerebellar ataxia type 14 | |
| Spinocerebellar ataxia type 34 | |
| Splenomegaly | |
| Spondyloepiphyseal dysplasia congenita | |
|
Spondyloepiphyseal dysplasia with metatarsal shortening
|
|
| Spondylometaphyseal dysplasia | |
|
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
|
|
| Spondyloperipheral dysplasia | |
| SRD5A3-congenital disorder of glycosylation | |
| Stargardt disease 3 | |
| Stargardt disease 4 | |
| Steppage gait | |
| Stickler syndrome type 1 | |
| Stickler syndrome type 2 | |
| Stickler syndrome, type 4 | |
|
Stickler syndrome, type I, nonsyndromic ocular
|
|
| Strabismus, susceptibility to | |
| Syndactyly | |
| Syndactyly type 3 | |
| Syndromic microphthalmia | |
| Syndromic microphthalmia type 5 | |
| Systemic lupus erythematosus | |
| Temblor | |
| Temtamy syndrome | |
| Tetralogía de Fallot | |
| Tetralogy of Fallot | |
| Tricotiodistrofia 1, fotosensible | |
| Trigonocefalia 2 | |
| TWIST1-related craniosynostosis | |
| Uveítis | |
| Xeroderma pigmentoso, grupo D | |
| Xeroderma pigmentoso, grupo G |
Panel Displasias Óseas
Este estudio incluye 411 genes asociados a más de 405 condiciones.
$17,100 MN
Panel Displasias Óseas
Tabla de genes y condiciones
| GENES | CONDICIONES |
| ACAN | Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, Osteochondritis dissecans, short stature, and early-onset osteoarthritis |
| ACP5 | Spondyloenchondrodysplasia with immune dysregulation |
| ACVR1 | Fibrodysplasia ossificans progressiva |
| ADAMTS10 | Weill-Marchesani syndrome |
| ADAMTS17 | Weill-Marchesani-like syndrome |
| ADAMTSL2#* | Geleophysic dysplasia 3 |
| AGA | Aspartylglucosaminuria |
| AGPS | Rhizomelic chondrodysplasia punctata type 3 |
| AIFM1 | Deafness, Combined oxidative phosphorylation deficiency 6, Cowchock syndrome |
| AKT1 | Proteus syndrome, Cowden syndrome |
| ALPL | Odontohypophosphatasia, Hypophosphatasia perinatal lethal, infantile, juvenile and adult forms |
| ALX1 | Frontonasal dysplasia 3 |
| ALX3 | Frontonasal dysplasia type 1 |
| ALX4 | Frontonasal dysplasia type 2, Parietal foramina |
| AMER1 | Osteopathia striata with cranial sclerosis |
| ANKH | Calcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type |
| ANKRD11* | KBG syndrome |
| ANO5 | Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies |
| ANTXR2 | Hyalinosis, infantile systemic, Fibromatosis, juveline hyaline |
| ARCN1 | Rhizomelic short stature with microcephaly, micrognathia, and developmental delay (SRMMD) |
| ARHGAP31 | Adams-Oliver syndrome |
| ARID1B | Coffin-Siris syndrome, Intellectual developmental disorder |
| ARSB | Mucopolysaccharidosis (Maroteaux-Lamy) |
| ARSE* | Chondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1) |
| ATP6V0A2 | Cutis laxa, Wrinkly skin syndrome |
| ATR | Cutaneous telangiectasia and cancer syndrome, Seckel syndrome |
| B3GALT6# | Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome |
| B3GAT3#* | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects |
| B4GALT7 | Ehlers-Danlos syndrome, progeroid form |
| BGN | Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome |
| BHLHA9 | Syndactyly Malik-Percin type, mesoaxial synostotic, with phalangeal reduction, Split hand-foot malformation with long bone deficiency (SHFLD3), Gollop-Wolfgang |
| BMP1 | Osteogenesis imperfecta |
| BMP2 | Brachydactyly type A2 |
| BMPER | Diaphanospondylodysostosis |
| BMPR1B | Acromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2, Pulmonary arterial hypertension (PAH) |
| C21ORF2 | Retinal dystrophy with or without macular staphyloma (RDMS), Spondylometaphyseal dysplasia, axial (SMDAX) |
| C2CD3 | Orofaciodigital syndrome XIV |
| CA2 | Osteopetrosis, with renal tubular acidosis |
| CANT1 | Desbuquois dysplasia, Epiphyseal dysplasia, multiple |
| CASR | Hypocalcemia, Neonatal hyperparathyroidism, Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism |
| CC2D2A# | COACH syndrome, Joubert syndrome, Meckel syndrome |
| CDC45 | Meier-Gorlin syndrome 7 |
| CDC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| CDH3 | Hypotrichosis, congenital, with juvenile macular dystrophy, Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome |
| CDKN1C | Beckwith-Wiedemann syndrome, IMAGE syndrome |
| CDT1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| CENPE | Microcephaly 13, primary, autosomal recessive |
| CEP120 | Short-rib thoracic dysplasia 13 with or without polydactyly |
| CEP152 | Seckel syndrome, Microcephaly |
| CEP290* | Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndrome |
| CHST14 | Ehlers-Danlos syndrome, musculocontractural |
| CHST3 | Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) |
| CHSY1 | Temtamy preaxial brachydactyly syndrome |
| CKAP2L | Filippi syndrome |
| CLCN5 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, Hypophosphatemic rickets,, Nephrolithiasis, I, Dent disease |
| CLCN7 | Osteopetrosis |
| COG1 | Congenital disorder of glycosylation |
| COG4 | Congenital disorder of glycosylation |
| COL10A1 | Metaphyseal chondrodysplasia, Schmid |
| COL11A1 | Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2, Deafness |
| COL11A2 | Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular) |
| COL1A1 | Ehlers-Danlos syndrome, Caffey disease, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL1A2 | Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL27A1 | Steel syndrome |
| COL2A1 | Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1 |
| COL9A1 | Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome, type IV |
| COL9A2 | Stickler syndrome, Multiple epiphyseal dysplasia type 2 (EDM2) |
| COL9A3 | Multiple epihyseal dysplasia type 3 (EDM3), Stickler syndrome recessive type |
| COMP | Pseudoachondroplasia, Multiple epiphyseal dysplasia |
| CREB3L1 | Osteogenesis imperfecta, type XVI |
| CREBBP | Rubinstein-Taybi syndrome |
| CRIPT | Short stature with microcephaly and distinctive facies |
| CRLF1 | Crisponi syndrome, Cold-induced sweating syndrome, type 1 |
| CRTAP | Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| CSF1R | Leukoencephalopathy, diffuse hereditary, with spheroids |
| CSPP1 | Jeune asphyxiating thoracic dystrophy, Joubert syndrome |
| CTSA | Galactosialidosis |
| CTSK | Pycnodysostosis |
| CUL7 | 3-M syndrome, Yakut short stature syndrome |
| CYP27B1 | Vitamin D-dependent rickets |
| CYP2R1 | Vitamin D hydroxylation deficient rickets, type 1B |
| DDR2 | Spondylometaepiphyseal dysplasia, short limb-hand type |
| DDX58 | Singleton-Merten syndrome |
| DHCR24 | Desmosterolosis |
| DHODH | Postaxial acrofacial dysostosis (Miller syndrome) |
| DLL3 | Spondylocostal dysostosis |
| DLL4 | Adams-Oliver syndrome |
| DLX3 | Amelogenesis imperfecta, Trichodontoosseous syndrome |
| DLX5 | Split-hand/foot malformation with sensorineural hearing loss, Split-hand/foot malformation |
| DMP1 | Hypophosphatemic rickets |
| DNAJC21 | Bone marrow failure syndrome 3 |
| DNMT3A | Tatton-Brown-Rahman syndrome |
| DOCK6 | Adams-Oliver syndrome |
| DONSON | Microcephaly, short stature, and limb abnormalities (MISSLA), Microcephaly-Micromelia syndrome |
| DSE* | Ehlers-Danlos syndrome, musculocontractural type 2 |
| DVL1 | Robinow syndrome |
| DVL3 | Robinow syndrome, autosomal dominant 3 |
| DYM | Dyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasia |
| DYNC2H1 | Short -rib thoracic dysplasia with or without polydactyly type 1, Short -rib thoracic dysplasia with or without polydactyly type 3, Jeune asphyxiating thoracic dystrophy, SRPS type 2 (Majewski) |
| DYNC2LI1 | Short-rib thoracic dysplasia 15 with polydactyly |
| EBP | Chondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND) |
| EDN1 | Question-mark ears, isolated, Auriculocondylar Syndrome 3 |
| EDNRA | Mandibulofacial dysostosis with alopecia |
| EFL1* | Shwachman-Diamond syndrome |
| EFNB1 | Craniofrontonasal dysplasia |
| EFTUD2 | Mandibulofacial dysostosis with microcephaly, Esophageal atresia, syndromic |
| EIF2AK3 | SED, Wolcott-Rallison type |
| EIF4A3 | Richieri-Costa-Pereira Syndrome |
| ENAM | Amelogenesis imperfecta |
| ENPP1 | Arterial calcification, Hypophosphatemic rickets |
| EOGT | Adams-Oliver syndrome |
| EP300 | Rubinstein-Taybi syndrome |
| ERF | Craniosynostosis 4, Chitayat syndrome |
| ESCO2 | SC phocomelia syndrome, Roberts syndrome |
| EVC | Weyers acrofacial dysostosis, Ellis-van Creveld syndrome |
| EVC2 | Ellis-van Creveld syndrome, Weyers acrodental dysostosis |
| EXT1 | Multiple cartilagenious exostoses 1 |
| EXT2 | Multiple cartilagenious exostoses 2, Seizures, scoliosis, and macrocephaly syndrome |
| EXTL3 | Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) |
| EZH2 | Weaver syndrome |
| FAM111A | Kenny-Caffey syndrome, type 2 |
| FAM20A | Amelogenesis imperfecta (Enamel-renal syndrome) |
| FAM20C | Hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome) |
| FAM46A | Osteogenesis imperfecta |
| FAM83H | Amelogenesis imperfecta |
| FANCB | Fanconi anemia |
| FANCC | Fanconi anemia |
| FBN1 | MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia 2 |
| FBN2 | Congenital contractural arachnodactyly (Beals syndrome) |
| FERMT3 | Leukocyte adhesion deficiency |
| FGF10 | Aplasia of lacrimal and salivary glands |
| FGF23 | Tumoral calcinosis, hyperphosphatemic, Hypophosphatemic rickets |
| FGF9 | Multiple synostoses syndrome 3 |
| FGFR1 | Pfeiffer syndrome, Trigonocephaly, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism – Craniostenosis, Hartsfield syndrome |
| FGFR2 | Apert syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Lacrimoauriculodentodigital syndrome, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial-skeletal-dermatological dysplasia, Crouzon syndrome, Bent bone dysplasia |
| FGFR3 | Lacrimoauriculodentodigital syndrome, Muenke syndrome, Crouzon syndrome with acanthosis nigricans, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2, SADDAN |
| FIG4 | Amyotrophic lateral sclerosis, Polymicrogyria, bilateral occipital, Yunis-Varon syndrome, Charcot-Marie-Tooth disease |
| FKBP10 | Bruck syndrome 1, Osteogenesis imperfecta, type XI |
| FKBP14 | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
| FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects, Periventricular nodular heterotopia 1, Melnick-Needles syndrome, Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome, Cardiac valvular dysplasia, X-linked |
| FLNB | Larsen syndrome (dominant), Atelosteogenesis type 1, Atelosteogenesis type 3, Spondylo-carpal-tarsal dyspasia, Boomerang dysplasia |
| FN1 | Glomerulopathy with fibronectin deposits 2 |
| FTO | Growth retardation, developmental delay, and facial dysmorphism |
| FUCA1 | Fucosidosis |
| FZD2 | |
| GALNS | Mucopolysaccharidosis (Morquio syndrome) |
| GALNT3 | Tumoral calcinosis, hyperphosphatemic |
| GCM2 | Hypoparathyroidism, familial isolated, Hyperparathyroidism 4 |
| GDF3 | Microphthalmia, isolated 7, Microphthalmia, isolated, with coloboma 6, Klippel-Feil syndrome 3, autosomal dominant, Coloboma, ocular |
| GDF5 | Multiple synostoses syndrome, Fibular hypoplasia and complex brachydactyly, Acromesomelic dysplasia, Hunter-Thompson, Symphalangism, proximal, Chondrodysplasia, Brachydactyly type A2, Brachydactyly type C, Grebe dysplasia |
| GDF6 | Microphthalmia, isolated 4, Microphthalmia, isolated, with coloboma 6, Coloboma, ocular, Klippel-Feil syndrome 1, autosomal dominant, Leber congenital amaurosis 17 |
| GJA1* | Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3 |
| GLB1 | GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome) |
| GLI3 | Acrocallosal syndrome, Pallister-Hall syndrome, Grieg cephalopolysndactyly syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4 |
| GMNN | Meier-Gorlin syndrome 6 |
| GNAI3 | Auriculocondylar syndrome 1 |
| GNAS | McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism, Albright hereditary osteodystrophy |
| GNPAT | Rhizomelic chondrodysplasia punctata, rhizomelic |
| GNPTAB | Mucolipidosis |
| GNPTG | Mucolipidosis |
| GNS | Mucopolysaccharidosis (Sanfilippo syndrome) |
| GORAB | Geroderma osteodysplasticum |
| GPC6 | Omodysplasia 1 |
| GSC | Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities (SAMS) |
| GUSB* | Mucopolysaccharidosis |
| GZF1 | Joint laxity, short stature, and myopia (JLSM) |
| HAAO | Vertebral, cardiac, renal, and limb defects syndrome 1 |
| HDAC4 | Brachydactyly-intellectual disability syndrome |
| HDAC8 | Cornelia de Lange syndrome |
| HES7 | Spondylocostal dysostosis 4, autosomal recessive |
| HOXA11 | Radioulnar synostosis with amegakaryocytic thrombocytopenia |
| HOXA13# | Hand-foot-uterus syndrome, Hand-foot-genital syndrome, Guttmacher syndrome |
| HOXD13 | Brachydactyly-syndactyly syndrome, Synopolydactyly, Syndactyly, Synopolydactyly with clefting, Brachydactyly type D |
| HPGD | Allelic Digital clubbing, isolated congenital |
| HRAS | Costello syndrome, Congenital myopathy with excess of muscle spindles |
| HSPA9 | Even-Plus syndrome |
| HSPG2 | Schwartz-Jampel syndrome, Dyssegmental dysplasia Silverman-Handmaker type, Dyssegmental dysplasia Rolland-Desbuquis type |
| IARS2 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) |
| ICK | Endocrine-cerebroosteodysplasia, Epilepsy, juvenile myoclonic |
| IDH2 | D-2-hydroxyglutaric aciduria 2 |
| IDS* | Mucopolysaccharidosis |
| IDUA | Mucopolysaccharidosis |
| IFIH1 | Singleton-Merten syndrome, Aicardi-Goutieres syndrome 7 |
| IFITM5 | Osteogenesis imperfecta type 5 |
| IFT122* | Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2 |
| IFT140 | Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune) |
| IFT172 | Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune) |
| IFT43 | Cranioectodermal dysplasia 3 |
| IFT52 | Short-rib thoracic dysplasia 16 with or without polydactyly |
| IFT57 | |
| IFT80 | Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune) |
| IFT81# | Short rib thoracic dysplasia with polydactyly, Cone-Rod dystrophy, autosomal recessive |
| IGF2 | Growth restriction, severe, with distinctive facies |
| IHH | Acrocapitofemoral dysplasia, Brachydactyly, Syndactyly type Lueken |
| IL1RN | Osteomyelitis, sterile multifocal, with periostitis and pustulosis |
| IMPAD1 | Chondrodysplasia with joint dislocations, GPAPP type |
| INPPL1 | Opsismodysplasia |
| INTU | |
| KAT6B | Ohdo syndrome, SBBYS variant, Genitopatellar syndrome |
| KCNJ2 | Short QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillation |
| KIAA0586# | Short rib thoracic dysplasia with polydactyly, Joubert syndrome |
| KIAA0753 | Orofaciodigital syndrome XV |
| KIF22 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 |
| KIF7 | Acrocallosal syndrome, Hydrolethalus syndrome, Al-Gazali-Bakalinova syndrome, Joubert syndrome |
| KL | Tumoral calcinosis, hyperphosphatemic |
| KMT2A | Wiedemann-Steiner syndrome |
| KYNU | Hydroxykynureninuria, Vertebral, cardiac, renal, and limb defects syndrome 2 |
| LBR | Pelger-Huet anomaly, Reynolds syndrome, Greenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia |
| LEMD3 | Buschke-Ollendorff syndrome, Osteopoikilosis |
| LFNG# | Spondylocostal dysostosis, autosomal recessive 3 |
| LIFR | Stuve-Wiedemann dysplasia, Schwartz-Jampel type 2 syndrome |
| LMNA | Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type |
| LMX1B | Nail-patella syndrome |
| LONP1 | Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome |
| LPIN2 | Majeed syndrome |
| LRP4 | Cenani-Lenz syndactyly syndrome, Sclerosteosis, Myasthenic syndrome, congenital |
| LRP5* | Van Buchem disease, Osteoporosis-pseudoglioma syndrome, Hyperostosis, endosteal, Osteosclerosis, Exudative vitreoretinopathy, Osteopetrosis late-onset form type 1, LRP5 primary osteoporosis |
| LTBP2 | Weill-Marchesani syndrome, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Glaucoma, primary congenital |
| LTBP3 | Dental anomalies and short stature, Geleophysic dysplasia 3 |
| MAFB | Multicentric carpotarsal osteolysis |
| MAP2K1 | Cardiofaciocutaneous syndrome |
| MAP3K7 | Frontometaphyseal dysplasia 2 |
| MATN3 | Spondyloepimetaphyseal dysplasia Matrilin type, Multiple epiphyseal dysplasia type 5 (EDM5) |
| MBTPS2 | Keratosis follicularis spinulosa decalvans, IFAP syndrome, Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, Osteogenesis imperfecta |
| MECOM | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 |
| MEGF8 | Carpenter syndrome 2 |
| MEOX1 | Klippel-Feil syndrome 2 |
| MESP2 | Spondylocostal dysostosis 2, autosomal recessive |
| MET | Deafness, Renal cell carcinoma, papillary, Osteofibrous dysplasia, susceptibility to |
| MGP | Keutel syndrome |
| MKS1 | Bardet-Biedl syndrome, Meckel syndrome |
| MMP13 | Metaphyseal anadysplasia 1, Metaphyseal dysplasia, Spahr type, Spondyloepimetaphyseal dysplasia, Missouri type |
| MMP2 | Torg-Winchester syndrome, Multicentric osteolysis, nodulosis, and arthropathy |
| MMP9 | Metaphyseal anadysplasia |
| MNX1# | Currarino syndrome |
| MSX2* | Parietal foramina, Parietal foramina with cleidocranial dysplasia, Craniosynostosis Boston type |
| MYCN | Feingold syndrome |
| MYH3 | Arthrogryposis |
| MYO18B | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism |
| NANS | Spondyloepimetaphyseal dysplasia Genevieve type |
| NBAS | Infantile liver failure syndrome 2, Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome) |
| NEK1 | Short -rib thoracic dysplasia with or without polydactyly, SRPS type 2 (Majewski) |
| NF1* | Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndrome |
| NFIX | Marshall-Smithsyndrome, Sotos syndrome 2 |
| NIPBL | Cornelia de Lange syndrome |
| NKX3-2 | Spondylo-megaepiphyseal-metaphyseal dysplasia |
| NOG | Tarsal-carpal coalition syndrome, Multiple synostosis syndrome, Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Brachydactyly type B2 |
| NOTCH1 | Aortic valve disease, Adams-Oliver syndrome |
| NOTCH2* | Alagille syndrome, Hajdu-Cheney syndrome |
| NPR2 | Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalities |
| NSD1 | Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndrome |
| NSDHL | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), CK syndrome |
| OBSL1 | 3-M syndrome |
| OFD1 | Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndrome |
| ORC1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| ORC4 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| ORC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| OSTM1 | Osteopetrosis, autosomal recessive 5 |
| P3H1 | Osteogenesis imperfecta |
| P4HB | Cole Carpenter syndrome 1 |
| PAM16 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type |
| PAPSS2 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 type |
| PAX3 | Craniofacial-deafness-hand syndrome, Waardenburg syndrome, type 1, Waardenburg syndrome, type 3 |
| PCNT | Microcephalic osteodysplastic primordial dwarfism |
| PCYT1A | Spondylometaphyseal dysplasia with cone-rod dystrophy |
| PDE3A | Hypertension with brachydactyly |
| PDE4D | Acrodysostosis 2, with or without hormone resistance |
| PEX5 | Adrenoleukodystrophy, neonatal, Rhizomelic chondrodysplasia punctata, Zellweger syndrome, Peroxisome biogenesis disorder |
| PEX7 | Refsum disease, Rhizomelic CDP type 1 |
| PGM3 | Immunodeficiency 23 |
| PHEX | Hypophosphatemic rickets |
| PIGV | Hyperphosphatasia with mental retardation syndrome 1 |
| PIK3CA* | Cowden syndrome, CLOVES |
| PISD | |
| PITX1 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, Liebenberg syndrome |
| PLCB4 | Auriculocondylar syndrome 2 |
| PLEKHM1* | Osteopetrosis, autosomal recessive 6, Osteopetrosis |
| PLOD1 | Ehlers-Danlos syndrome |
| PLOD2 | Bruck syndrome, Osteogenesis imperfecta type 3 |
| PLS3 | Osteoporosis and osteoporotic fractures |
| POC1A | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT syndrome) |
| POLR1A | Acrofacial dysostosis, Cincinnati type |
| POLR1C# | Treacher Collins syndrome |
| POLR1D | Treacher Collins syndrome |
| POLR3A | Leukodystrophy, hypomyelinating |
| POLR3B | Leukodystrophy, hypomyelinating |
| POP1 | Anauxetic dysplasia 2 |
| POR | Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency, Antley-Bixler syndrome |
| PPIB | Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| PRKAR1A | Myxoma, intracardiac, Acrodysostosis, Pigmented nodular adrenocortical disease, Carney complex |
| PTDSS1 | Lenz-Majewski hyperostotic dwarfism |
| PTH1R | Metaphyseal chondrodysplasia Jansen type, Failure of tooth eruption, Eiken dysplasia, Blomstrand dysplasia |
| PTHLH | Brachydactyly, type E2 |
| PTPN11 | Noonan syndrome, Metachondromatosis |
| PYCR1 | Cutis laxa AR type 2B |
| RAB23 | Carpenter syndrome 1 |
| RAB33B | Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 2 |
| RAD21* | Cornelia de Lange syndrome 4 |
| RBBP8 | Seckel syndrome, Jawad syndrome |
| RBM8A* | Thrombocytopenia – absent radius |
| RBPJ* | Adams-Oliver syndrome |
| RECQL4 | Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome |
| RIPPLY2 | Spondylocostal dysostosis, autosomal recessive 6 |
| RMRP | Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia |
| RNU4ATAC | Roifman syndrome, Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3 |
| ROR2 | Robinow syndrome recessive type, Brachydactyly type B |
| RPGRIP1L# | COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier |
| RSPRY1 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type |
| RUNX2 | Cleidocranial dysplasia, Metaphyseal dysplasia with maxillary hypoplasia |
| SALL1* | Townes-Brocks syndrome 1 |
| SALL4 | Acro-renal-ocular syndrome, Duane-radial ray/Okihiro syndrome |
| SBDS* | Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasia |
| SC5D | Lathosterolosis |
| SEC24D | Cole-Carpenter syndrome 2 |
| SERPINF1 | Osteogenesis imperfecta, type VI |
| SERPINH1 | Osteogenesis imperfecta type 3 |
| SETBP1 | Mental retardation, autosomal dominant 29, Schinzel-Giedion midface retraction syndrome |
| SETD2 | Luscan-Lumish syndrome |
| SF3B4 | Acrofacial dysostosis 1, Nager |
| SFRP4 | Pyle disease |
| SGMS2 | Osteoporosis and osteoporotic fractures, Skeletal dysplasia and disorders |
| SGSH | Mucopolysaccharidosis (Sanfilippo syndrome) |
| SH3BP2 | Cherubism |
| SH3PXD2B | Frank-ter Haar syndrome |
| SHH | Holoprosencephaly, Microphthalmia with coloboma |
| SHOX#* | Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, Short stature |
| SKI | Shprintzen-Goldberg syndrome |
| SLC10A7 | |
| SLC17A5 | Sialuria, Finnish (Salla disease), Infantile sialic acid storage disorder |
| SLC26A2 | Diastrophic dysplasia, Atelosteogenesis type 2, De la Chapelle dysplasia, Recessive Multiple Epiphyseal dysplasia, Achondrogenesis type 1B |
| SLC29A3 | Histiocytosis-lymphadenopathy plus syndrome, Dysosteosclerosis |
| SLC34A3 | Hypophosphatemic rickets with hypercalciuria |
| SLC35D1 | Schneckenbecken dysplasia |
| SLC39A13 | Spondylodysplastic Ehlers-Danlos syndrome |
| SLCO2A1 | Hypertrophic osteoarthropathy |
| SMAD2 | Loeys-Dietz syndrome, Congenital heart defects, nonsyndromic |
| SMAD3 | Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome |
| SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasia |
| SMARCA4 | Rhabdoid tumor predisposition syndrome |
| SMARCAL1 | Schimke immunoosseous dysplasia |
| SMARCB1 | Schwannomatosis, Rhabdoid tumor predisposition syndrome, Coffin-Siris syndrome 3 |
| SMARCE1 | Coffin-Siris syndrome |
| SMC1A | Cornelia de Lange syndrome |
| SMC3 | Cornelia de Lange syndrome |
| SNRPB | Cerebrocostomandibular syndrome |
| SNX10 | Osteopetrosis, autosomal recessive 8 |
| SOST | Craniodiaphyseal dysplasia, autosomal dominant, Sclerosteosis 1, van Buchem disease |
| SOX9 | Campomelic dysplasia, 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome) |
| SP7 | Osteogenesis imperfecta, type XII |
| SPARC | Keratoconus, Osteogenesis imperfecta, type XVII |
| SQSTM1 | Paget disease of bone, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Myopathy, distal, with rimmed vacuoles, Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset |
| SRP54 | Shwachman-Diamond syndrome |
| STAMBP | Microcephaly-capillary malformation syndrome |
| SUMF1 | Multiple sulfatase deficiency |
| TAB2 | Congenital heart defects, multiple types, 2 |
| TAPT1 | |
| TBCE | Progressive encephalopathy with amyotrophy and optic atrophy (PEAMO) |
| TBX15 | Cousin syndrome |
| TBX3 | Ulnar-Mammary syndrome |
| TBX4 | Small patella syndrome |
| TBX5 | Holt-Oram syndrome |
| TBX6 | Spondylocostal dysostosis 5 |
| TBXAS1 | Ghosal hematodiaphyseal syndrome |
| TCF12 | Craniosynostosis |
| TCIRG1 | Osteopetrosis, severe neonatal or infantile forms (OPTB1) |
| TCOF1 | Treacher Collins syndrome |
| TCTEX1D2 | Short-rib thoracic dysplasia 17 with or without polydactyly, Jeune Asphyxiating Thoracic Dystrophy |
| TCTN3 | Orofaciodigital syndrome (Mohr-Majewski syndrome), Joubert syndrome |
| TGDS | Catel-Manzke syndrome |
| TGFB1 | Diaphyseal dysplasia Camurati-Engelmann |
| TGFB2 | Loeys-Dietz syndrome |
| TGFB3 | Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasia |
| TGFBR1 | Loeys-Dietz syndrome |
| TGFBR2 | Loeys-Dietz syndrome |
| THPO | Thrombocythemia 1 |
| TMEM165 | Congenital disorder of glycosylation |
| TMEM216 | Joubert syndrome, Meckel syndrome |
| TMEM38B | Osteogenesis imperfecta, type XIV |
| TMEM67 | Nephronophthisis, COACH syndrome, Joubert syndrome, Meckel syndrome |
| TNFRSF11A | Familial expansile osteolysis, Paget disease of bone, Osteopetrosis, severe neonatal or infantile forms (OPTB1) |
| TNFRSF11B | Paget disease of bone, juvenile |
| TNFSF11 | Osteopetrosis, autosomal recessive 2 |
| TONSL | Spondyloepimetaphyseal dysplasia |
| TP63 | Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome |
| TRAF3IP1 | Senior-Loken syndrome 9 |
| TRAPPC2* | Spondyloepiphyseal dysplasia tarda |
| TREM2 | Nasu-Hakola disease, Early-onset dementia without bone cysts, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
| TRIP11* | Achondrogenesis, type IA |
| TRPS1 | Trichorhinophalangeal syndrome type 1, Trichorhinophalangeal syndrome type 3 |
| TRPV4 | Metatropic dysplasia, Spondyloepiphyseal dysplasia Maroteaux type, Parastremmatic dwarfism, Hereditary motor and sensory neuropathy, Spondylometaphyseal dysplasia Kozlowski type, Spinal muscular atrophy, Charcot-Marie-Tooth disease, Brachyolmia (autosomal dominant type), Familial Digital arthropathy with brachydactyly |
| TRPV6 | Hyperparathyroidism |
| TTC21B | Short-rib thoracic dysplasia, Nephronophthisis, Asphyxiating thoracic dysplasia (ATD; Jeune) |
| TWIST1 | Saethre-Chotzen syndrome, Robinow-Sorauf syndrome, Craniosynostosis |
| TYROBP | Nasu-Hakola disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
| UFSP2 | Hip dysplasia, Beukes type |
| VDR | Vitamin D-dependent rickets |
| VIPAS39 | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| WDR19 | Retinitis pigmentosa, Nephronophthisis, Short -rib thoracic dysplasia with or without polydactyly, Senior-Loken syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Asphyxiating thoracic dysplasia (ATD; Jeune) |
| WDR34 | Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune) |
| WDR35 | Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5 |
| WDR60 | Short-rib thoracic dysplasia 8 with or without polydactyly |
| WISP3 | Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy |
| WNT1 | Osteoprosis, autosomal dominant, Osteogenesis imperfecta, type XV |
| WNT10B | Tooth agenesis, selective, 8, Split-hand/foot malformation 6 |
| WNT5A | Robinow syndrome |
| WNT7A | Ulna and fibula, absence of, with severe limb deficiency (Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome), Fuhrmann syndrome |
| XRCC4 | Short stature, microcephaly, and endocrine dysfunction |
| XYLT1 | Desbuquois dysplasia 2 |
| XYLT2 | Spondyloocular syndrome |
| ZMPSTE24 | Restrictive dermopathy, lethal, Mandibuloacral dysplasia with B lipodystrophy |
| ZSWIM6 | Acromelic frontonasal dysostosis |
Panel Charcot–Marie–Tooth
Este estudio incluye 154 genes asociados a más de 154 condiciones.
$17,100 MN
Panel Charcot–Marie–Tooth
Tabla de genes y condiciones
| GENES | CONDICIONES |
| AARS | 2-aminoadipic and 2-oxoadipic aciduria, Charcot-Marie-Tooth disease |
| AGTPBP1 | Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome) |
| AIFM1 | Alpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect |
| AMACR | Amyloidosis, Finnish type |
| ARHGEF10 | Amyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget disease, Charcot-Marie-Tooth disease |
| ATAD3A* | Amyotrophic lateral sclerosis, Polymicrogyria, bilateral occipital, Yunis-Varon syndrome, Charcot-Marie-Tooth disease |
| ATL1 | Amyotrophy, hereditary neuralgic |
| ATL3 | Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome |
| ATP1A1 | Ataxia with oculomotor apraxia, Amyotrophic lateral sclerosis, juvenile, Spinocerebellar ataxia |
| ATP7A | Axonal neuropathy with neuromyotonia |
| BAG3 | Basel-Vanagait-Smirin-Yosef syndrome, Charcot-Marie-Tooth disease |
| BICD2 | Brown-Vialetto-Van Laere syndrome |
| BSCL2 | Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophic |
| C12ORF65 | Cerebrotendinous xanthomatosis |
| CCT5 | Charcot-Marie-Tooth disease |
| CHCHD10 | Charcot-Marie-Tooth disease |
| COA7 | Charcot-Marie-Tooth disease |
| COX10* | Charcot-Marie-Tooth disease |
| COX6A1 | Charcot-Marie-Tooth disease |
| CTDP1 | Charcot-Marie-Tooth disease |
| CYP27A1 | Charcot-Marie-Tooth disease |
| DCAF8 | Charcot-Marie-Tooth disease |
| DCTN1 | Charcot-Marie-Tooth disease |
| DHTKD1 | Charcot-Marie-Tooth disease |
| DNAJB2 | Charcot-Marie-Tooth disease |
| DNM2 | Charcot-Marie-Tooth disease |
| DNMT1 | Charcot-Marie-Tooth disease |
| DST | Charcot-Marie-Tooth disease |
| DYNC1H1 | Charcot-Marie-Tooth disease |
| EGR2 | Charcot-Marie-Tooth disease |
| FAM134B | Charcot-Marie-Tooth disease type, axonal, type 2Z, Neurodevelopmental disorder |
| FBLN5 | Charcot-Marie-Tooth disease, axonal, type 2CC |
| FBXO38 | Charcot-Marie-Tooth disease, axonal, type 2W, Usher syndrome, type 3B |
| FGD4 | Charcot-Marie-Tooth disease, Deafness, autosomal recessive, Leukoencephalopathy |
| FIG4 | Charcot-Marie-Tooth disease, Distal hereditary motor neuronopathy |
| FXN* | Charcot-Marie-Tooth neuropathy |
| GAN | Charcot-Marie-Tooth neuropathy |
| GARS | Childhood-onset proximal spinal muscular atrophy with contractures |
| GDAP1 | Chloramphenicol toxicity/resistance |
| GJB1 | Congenital cataracts, facial dysmorphism, and neuropathy |
| GNB4 | Cutis laxa, Macular degeneration, age-related |
| GNE | Cytochrome c oxidase deficiency |
| GSN | Cytochrome c oxidase deficiency, Leber hereditary optic neuropathy |
| HADHB | Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility to |
| HARS | Deafness, Combined oxidative phosphorylation deficiency 6, Cowchock syndrome |
| HINT1 | Deafness, mitochondrial |
| HK1# | Dejerine-Sottas disease, Charcot-Marie-Tooth disease |
| HSPB1 | Diabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetes |
| HSPB8 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| IGHMBP2 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| IKBKAP | Dysautonomia, familial, Hereditary sensory and autonomic neuropathy |
| INF2 | Dystransthyretinemic hyperthyroxinemia, Amyloidosis, hereditary, transthyretin-related |
| KARS | Encephalopathy, mitochondrial |
| KIF1A | Epileptic encephalopathy, early infantile, Ataxia-oculomotor |
| KIF1B | Epileptic encephalopathy, early infantile, Charcot-Marie-Tooth disease |
| KIF5A | Episodic pain syndrome, familial, 3, Neuropathy, hereditary sensory and autonomic, type VII |
| LDB3 | Fazio-Londe disease, Brown-Vialetto-Van Laere syndrome |
| LITAF | Friedreich ataxia |
| LMNA | Giant axonal neuropathy |
| LRSAM1 | Giant axonal neuropathy 2, autosomal dominant |
| MARS | Glomerulosclerosis, Charcot-Marie-Tooth disease |
| MCM3AP | Harel-Yoon syndrome |
| MED25 | Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type |
| MFN2 | Hemolytic anemia, nonspherocytic, due to hexokinase deficiency, Retinitis pigmentosa 79, Neuropathy, motor and sensory, Russe type (Charcot-Marie-Tooth disease type 4G) |
| MME | Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease |
| MORC2 | Hereditary sensory and autonomic neuropathy |
| MPV17 | Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Mitochondrial multisystemic disorder, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes |
| MPZ | Insensitivity to pain, congenital, with anhidrosis, Medullary thyroid carcinoma, familial |
| MT-ATP6 | Interstitial lung and liver disease, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, axonal, type 2U |
| MT-ATP8 | Leber hereditary optic neuropathy |
| MT-CO1 | Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency |
| MT-CO2 | Leber hereditary optic neuropathy, Mitochondrial complex I deficiency |
| MT-CO3 | Leber optic atrophy and dystonia, Mitochondrial complex I deficiency |
| MT-CYB | Leigh syndrome, Charcot-Marie-Tooth disease |
| MT-ND1 | Leigh syndrome, Mitochondrial complex IV deficiency |
| MT-ND2 | Leigh syndrome, Mitochondrial multisystemic disorder |
| MT-ND3 | Leigh syndrome, Myopathy, mitochondrial |
| MT-ND4 | Lipodystrophy, congenital generalized, Encephalopathy, progressive, Neuropathy, distal hereditary motor, type VA, Charcot-Marie-Tooth disease type 2, Silver syndrome, Silver spastic paraplegia syndrome, Spastic paraplegia 17 |
| MT-ND4L | Menkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3 |
| MT-ND5 | Metatropic dysplasia, Spondyloepiphyseal dysplasia Maroteaux type, Parastremmatic dwarfism, Hereditary motor and sensory neuropathy, Spondylometaphyseal dysplasia Kozlowski type, Spinal muscular atrophy, Charcot-Marie-Tooth disease, Brachyolmia (autosomal dominant type), Familial Digital arthropathy with brachydactyly |
| MT-ND6 | Mitochondrial DNA depletion syndrome |
| MT-RNR1 | Mitochondrial DNA depletion syndrome |
| MT-RNR2 | Mitochondrial multisystemic disorder |
| MT-TA | Mitochondrial multisystemic disorder |
| MT-TC | Mitochondrial multisystemic disorder |
| MT-TD | Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Mitochondrial Myopathy, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes |
| MT-TE | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes |
| MT-TF | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia |
| MT-TG | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency |
| MT-TH | Mononeuropathy of the median nerve, Charcot-Marie-Tooth disease |
| MT-TI | Myoclonic epilepsy with ragged red fibers, Leigh syndrome |
| MT-TK | Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes |
| MT-TL1 | Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiency |
| MT-TL2 | Myoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes |
| MT-TM | Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiency, Deafness, mitochondrial |
| MT-TN | Myopathy, congenital, with neuropathy and deafness |
| MT-TP | Myopathy, isolated mitochondrial, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Spinal muscular atrophy, Jokela type |
| MT-TQ | Myopathy, Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, Charcot-Marie-Tooth disease |
| MT-TR | Myopathy, myofibrillar, Muscular dystrophy, limb-girdle, 1A, Myopathy, spheroid body |
| MT-TS1 | Neuronopathy, distal hereditary motor |
| MT-TS2 | Neuropathy |
| MT-TT | Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrial |
| MT-TV | Neuropathy, Dejerine-Sottas disease, Charcot-Marie-Tooth disease |
| MT-TW | Neuropathy, distal hereditary motor, Charcot-Marie-Tooth disease |
| MT-TY | Neuropathy, distal hereditary motor, Charcot-Marie-Tooth disease |
| MTMR2 | Neuropathy, hereditary motor and sensory, type VIB |
| MYOT | Neuropathy, hereditary sensory |
| NDRG1 | Neuropathy, hereditary sensory and autonomic |
| NEFH* | Neuropathy, hereditary sensory and autonomic |
| NEFL | Neuropathy, hereditary sensory and autonomic |
| NGF | Neuropathy, hereditary sensory and autonomic |
| NTRK1 | Neuropathy, hereditary sensory and autonomic, Pseudohypoaldosteronism |
| PDK3 | Neuropathy, hereditary sensory and autonomic, type VIII |
| PLEKHG5 | Neuropathy, hereditary sensory, Cerebellar ataxia, deafness, and narcolepsy |
| PMP2 | Neuropathy, hereditary sensory, with spastic paraplegia |
| PMP22 | Neuropathy, inflammatory demyelinating, Roussy-Levy syndrome, Dejerine-Sottas disease, Neuropathy, hereditary, with liability to pressurve palsies, Charcot-Marie-Tooth disease |
| PNKP | Neuropathy, Roussy-Levy syndrome, Dejerine-Sottas disease, Charcot-Marie-Tooth disease |
| POLG | Paroxysmal extreme pain disorder, Small fiber neuropathy, Erythermalgia, primary, Generalized epilepsy with febrile seizures plus, type 7, Insensitivity to pain, congenital, autosomal recessive |
| POLG2 | Perry syndrome, Neuropathy, distal hereditary motor |
| PRDM12 | Pheochromocytoma, Neuroblastoma, Charcot-Marie-Tooth disease, type 2A1 |
| PRPS1* | Phosphoribosylpyrophosphate synthetase I superactivity, Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1 |
| PRX | POLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome |
| RAB7A | Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| REEP1 | Progressive external ophthalmoplegia, Mitochondrial multisystemic disorder |
| SACS | Proximal myopathy and ophthalmoplegia, Nonaka myopathy, Sialuria |
| SBF1 | Slowed nerve conduction velocity |
| SBF2 | Spastic ataxia, Charlevoix-Saguenay |
| SCN11A | Spastic paraplegia |
| SCN9A | Spastic paraplegia 15 |
| SCYL1 | Spastic paraplegia, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease |
| SEPT9 | Spastic paraplegia, Combined oxidative phosphorylation deficiency |
| SETX | Spastic paraplegia, Distal hereditary motor neuronopathy |
| SH3TC2 | Spastic paraplegia, Hereditary motor and sensory neuropathy, proximal |
| SLC12A6 | Spastic paraplegia, Neuropathy, hereditary sensory |
| SLC25A46 | Spastic paraplegia, Neuropathy, hereditary sensory, Intellectual developmental disorder |
| SLC52A2 | Spinal muscular atrophy, Charcot-Marie-Tooth disease |
| SLC52A3 | Spinal muscular atrophy, Charcot-Marie-Tooth disease, Intellectual developmental disorder |
| SMAD3 | Spinal muscular atrophy, distal, Charcot-Marie-Tooth disease |
| SPG11 | Spinal muscular atrophy, distal, Charcot-Marie-Tooth disease |
| SPTBN4 | Spinal muscular atrophy, infantile |
| SPTLC1 | Spinocerebellar ataxia 43, Charcot-Marie-Tooth disease, axonal, type 2T |
| SPTLC2 | Spinocerebellar ataxia, autosomal recessive 21 |
| SURF1 | Spinocerebellar ataxia, Charcot-Marie-Tooth disease |
| TFG | Trifunctional protein deficiency |
| TRIM2 | Charcot-Marie-Tooth disease |
| TRPV4 | Metatropic dysplasia, Spondyloepiphyseal dysplasia Maroteaux type, Parastremmatic dwarfism, Hereditary motor and sensory neuropathy, Spondylometaphyseal dysplasia Kozlowski type, Spinal muscular atrophy, Charcot-Marie-Tooth disease, Brachyolmia (autosomal dominant type), Familial Digital arthropathy with brachydactyly |
| TTR | Dystransthyretinemic hyperthyroxinemia, Amyloidosis, hereditary, transthyretin-related |
| TYMP | Mitochondrial DNA depletion syndrome |
| UBA1 | Spinal muscular atrophy, infantile |
| VCP | Amyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget disease, Charcot-Marie-Tooth disease |
| WNK1 | Neuropathy, hereditary sensory and autonomic, Pseudohypoaldosteronism |
| YARS | Charcot-Marie-Tooth disease |
| ZFYVE26 | Spastic paraplegia 15 |
Panel Sordera
En este estudio se analizan 260 genes relacionados con 468 condiciones.
$17,100 MN
Panel Sordera
Tabla de genes y condiciones
| GENES | CONDICIONES |
| ACTB (7p22.1) | Síndrome PHARC |
| ACTG1 (17q25.3) |
Aciduria 3-metilglutacónica con sordera, encefalopatía y síndrome tipo Leigh
|
| ADGRV1 (5q14.3) | Síndrome ABCD |
| ATP6V1B1 (2p13.3) | Ataxia cerebelosa abortiva |
| ATP6V1B2 (8p21.3) | Acondrogénesis tipo II |
| BCS1L (2q35) | Acondroplasia |
| BSND (1p32.3) | Deficiencia de acil-CoA oxidasa |
| CATSPER2 (15q15.3) |
Síndrome de Alagille debido a una mutación puntual JAG1
|
| CCDC50 (3q28) |
Adenoma productor de aldosterona con convulsiones y anomalías neurológicas
|
| CDH23 (10q22.1) | Síndrome de Alstrom |
| CEACAM16 (19q13.31-13.32) | Hemiplejía alternante de la infancia 2 |
| CEMIP (15q25.1) | Rabdomiosarcoma alveolar |
| CLDN14 (21q22.13) | Disgenesia del segmento anterior 3 |
| CLRN1 (3q25.1) | Síndrome de las artes |
| COCH (14q12) | Fibrilación auricular familiar, 3 |
| COL11A2 (6p21.32) |
Defecto del tabique auriculoventricular y unión auriculoventricular común
|
| COL9A2 (1p34.2) |
Síndrome de Alport autosómico dominante
|
| COL9A3 (20q13.33) |
Neuropatía auditiva autosómica dominante 1
|
| CRYM (16p12.2) |
Ataxia cerebelosa autosómica dominante, sordera y narcolepsia
|
| DIAPH1 (5q31.3) |
Síndrome de queratitis-ictiosis-pérdida auditiva autosómica dominante
|
| DSPP (4q22.1) |
Pérdida auditiva no sindrómica autosómica dominante 1
|
| ECE1 (1p36.12) |
Pérdida auditiva autosómica dominante no sindrómica 10
|
| EDNRA (4q31.22-31.23) |
Pérdida auditiva autosómica dominante no sindrómica 11
|
| EDNRB (13q22.3) |
Pérdida auditiva autosómica dominante no sindrómica 12
|
| ERCC2 (19q13.32) |
Pérdida auditiva autosómica dominante no sindrómica 13
|
| ERCC3 (2q14.3) |
Pérdida auditiva autosómica dominante no sindrómica 15
|
| ESPN (1p36.31) |
Pérdida auditiva autosómica dominante no sindrómica 17
|
| ESRRB (14q24.3) |
Pérdida auditiva autosómica dominante no sindrómica 20
|
| EYA4 (6q23.2) |
Pérdida auditiva autosómica dominante no sindrómica 22
|
| FAS (10q23.31) |
Pérdida auditiva autosómica dominante no sindrómica 23
|
| FGF3 (11q13.3) |
Pérdida auditiva autosómica dominante no sindrómica 25
|
| FGFR3 (4p16.3) |
Pérdida auditiva autosómica dominante no sindrómica 28
|
| FOXI1 (5q35.1) |
Pérdida auditiva no sindrómica autosómica dominante 2A
|
| GATA3 (10p14) |
Pérdida auditiva no sindrómica autosómica dominante 2B
|
| GIPC3 (19p13.3) |
Pérdida auditiva autosómica dominante no sindrómica 36
|
| GJA1 (6q22.31) |
Pérdida auditiva no sindrómica autosómica dominante 3A
|
| GJB1 (Xq13.1) |
Pérdida auditiva no sindrómica autosómica dominante 3B
|
| GJB2 (13q12.11) |
Pérdida auditiva autosómica dominante no sindrómica 40
|
| GJB3 (1p34.3) |
Pérdida auditiva autosómica dominante no sindrómica 41
|
| GJB4 (1p34.3) |
Pérdida auditiva autosómica dominante no sindrómica 44
|
| GJB6 (13q12.11) |
Pérdida auditiva no sindrómica autosómica dominante 4A
|
| GPSM2 (1p13.3) |
Pérdida auditiva no sindrómica autosómica dominante 4B
|
| GRHL2 (8q22.3) |
Pérdida auditiva autosómica dominante no sindrómica 50
|
| GRXCR1 (4p13) |
Pérdida auditiva autosómica dominante no sindrómica 6
|
| GSDME (7p15.3) |
Pérdida auditiva autosómica dominante no sindrómica 64
|
| GSTP1 (11q13.2) |
Pérdida auditiva autosómica dominante no sindrómica 65
|
| HAL (12q23.1) |
Pérdida auditiva autosómica dominante no sindrómica 66
|
| HGF (7q21.11) |
Pérdida auditiva autosómica dominante no sindrómica 67
|
| ILDR1 (3q13.33) |
Pérdida auditiva autosómica dominante no sindrómica 68
|
| JAG1 (20p12.2) |
Pérdida auditiva autosómica dominante no sindrómica 69
|
| KCNE1 (21q22.12) |
Pérdida auditiva autosómica dominante no sindrómica 70
|
| KCNJ10 (1q23.2) |
Pérdida auditiva autosómica dominante no sindrómica 9
|
| KCNQ1 (11p15.5-15.4) |
Atrofia óptica autosómica dominante, forma clásica
|
| KCNQ4 (1p34.2) |
Queratodermia palmoplantar autosómica dominante y alopecia congénita
|
| LHFPL5 (6p21.31) |
Síndrome de Alport autosómico recesivo
|
| LHX3 (9q34.3) |
Pérdida auditiva autosómica recesiva no sindrómica: Conceptos básicos
|
| LOXHD1 (18q21.1) |
Pérdida auditiva autosómica recesiva no sindrómica 102
|
| LRTOMT (11q13.4) |
Pérdida auditiva autosómica recesiva no sindrómica 103
|
| MARVELD2 (5q13.2) |
Pérdida auditiva autosómica recesiva no sindrómica 12
|
| MIR182 (7q32.2) |
Pérdida auditiva autosómica recesiva no sindrómica 15
|
| MIR183 (7q32.2) |
Pérdida auditiva autosómica recesiva no sindrómica 18A
|
| MITF (3p13) |
Pérdida auditiva autosómica recesiva no sindrómica 18B
|
| MSRB3 (12q14.3) |
Pérdida auditiva autosómica recesiva no sindrómica 1A
|
| MT-RNR1 () |
Pérdida auditiva autosómica recesiva no sindrómica 1B
|
| MT-TD () |
Pérdida auditiva autosómica recesiva no sindrómica 2
|
| L-J () |
Pérdida auditiva autosómica recesiva no sindrómica 21
|
| MT-TI () |
Pérdida auditiva autosómica recesiva no sindrómica 22
|
| MT-TK () |
Pérdida auditiva autosómica recesiva no sindrómica 23
|
| MT-TL1 () |
Pérdida auditiva autosómica recesiva no sindrómica 24
|
| MT-TL2 () |
Pérdida auditiva autosómica recesiva no sindrómica 28
|
| MT-TM () |
Pérdida auditiva autosómica recesiva no sindrómica 29
|
| MT-TQ () |
Pérdida auditiva autosómica recesiva no sindrómica 3
|
| MT-TS1 () |
Pérdida auditiva autosómica recesiva no sindrómica 30
|
| MT-TS2 () |
Pérdida auditiva autosómica recesiva no sindrómica 31
|
| MTAP (9p21.3) |
Pérdida auditiva autosómica recesiva no sindrómica 32
|
| MYH14 (19q13.33) |
Pérdida auditiva autosómica recesiva no sindrómica 35
|
| MYH9 (22q12.3) |
Pérdida auditiva autosómica recesiva no sindrómica 36
|
| MYO15A (17p11.2) |
Pérdida auditiva autosómica recesiva no sindrómica 37
|
| MYO1A (12q13.3) |
Pérdida auditiva autosómica recesiva no sindrómica 39
|
| MYO1C (17p13.3) |
Pérdida auditiva autosómica recesiva no sindrómica 4
|
| MYO1F (19p13.2) |
Pérdida auditiva autosómica recesiva no sindrómica 42
|
| MYO3A (10p12.1) |
Pérdida auditiva autosómica recesiva no sindrómica 44
|
| MYO6 (6q14.1) |
Pérdida auditiva autosómica recesiva no sindrómica 48
|
| MYO7A (11q13.5) |
Pérdida auditiva autosómica recesiva no sindrómica 49
|
| PND (Xp11.3) |
Pérdida auditiva autosómica recesiva no sindrómica 53
|
| NR2F1 (5q15) |
Pérdida auditiva autosómica recesiva no sindrómica 6
|
| OTOA (16p12.2) |
Pérdida auditiva autosómica recesiva no sindrómica 61
|
| OTOF (2p23.3) |
Pérdida auditiva autosómica recesiva no sindrómica 63
|
| OTOR (20p12.1) |
Pérdida auditiva autosómica recesiva no sindrómica 66
|
| P2RX2 (12q24.33) |
Pérdida auditiva autosómica recesiva no sindrómica 67
|
| PAX3 (2q36.1) |
Pérdida auditiva autosómica recesiva no sindrómica 68
|
| PCDH15 (10q21.1) |
Pérdida auditiva autosómica recesiva no sindrómica 7
|
| PDZD7 (10q24.31) |
Pérdida auditiva autosómica recesiva no sindrómica 70
|
| PJVK (2q31.2) |
Pérdida auditiva autosómica recesiva no sindrómica 74
|
| PMP22 (17p12) |
Pérdida auditiva autosómica recesiva no sindrómica 76
|
| POU3F4 (Xq21.1) |
Pérdida auditiva autosómica recesiva no sindrómica 77
|
| POU4F3 (5q32) |
Pérdida auditiva autosómica recesiva no sindrómica 8
|
| PRPS1 (Xq22.3) |
Pérdida auditiva autosómica recesiva no sindrómica 84B
|
| PTPRQ (12q21.31) |
Pérdida auditiva autosómica recesiva no sindrómica 86
|
| RDX (11q22.3) |
Pérdida auditiva autosómica recesiva no sindrómica 88
|
| SERPINB6 (6p25.2) |
Pérdida auditiva autosómica recesiva no sindrómica 9
|
| SIX1 (14q23.1) |
Pérdida auditiva autosómica recesiva no sindrómica 91
|
| SIX5 (19q13.32) |
Pérdida auditiva autosómica recesiva no sindrómica 93
|
| SLC17A8 (12q23.1) |
Pérdida auditiva autosómica recesiva no sindrómica 97
|
| SLC26A4 (7q22.3) |
Pérdida auditiva autosómica recesiva no sindrómica 98
|
| SLC26A5 (7q22.1) |
Atrofia óptica autosómica recesiva, tipo OPA7
|
| SLC4A11 (20p13) |
Necrosis avascular de la cabeza femoral, primaria, 1
|
| SMPX (Xp22.12) | Síndrome de Axenfeld-Rieger tipo 3 |
| SNAI2 (8q11.21) | Síndrome de Baraitser-Winter 2 |
| SOX2 (3q26.33) | Síndrome de Beckwith-Wiedemann |
| SPINK5 (5q32) | Hematuria familiar benigna |
| STRC (15q15.3) |
Deficiencia de enzima peroxisomal bifuncional
|
| TBL1X (Xp22.31-22.2) | deficiencia de biotinidasa |
| TCF21 (6q23.2) | Braquidactilia tipo B2 |
| TECTA (11q23.3) | Síndrome branquio-oculofacial |
| TFCP2 (12q13.12-13.13) | Síndrome branquiótico 1 |
| TIMM8A (Xq22.1) | Síndrome branquiótico 3 |
| TJP2 (9q21.11) | Síndrome branquio-otorrenal 1 |
| TMC1 (9q21.13) | Síndrome de córnea frágil 1 |
| TMIE (3p21.31) |
Síndrome de Brown-Vialetto-van Laere 1
|
| TMPRSS5 (11q23.2) |
Síndrome de Brown-Vialetto-van Laere 2
|
| TPRN (9q34.3) | Síndrome de CHARGE |
| TRIOBP (22q13.1) |
Síndrome de camptodactilia, talla alta, escoliosis y pérdida auditiva
|
| USH1C (11p15.1) | Catarata 41 |
| USH1G (17q25.1) |
Síndrome de ataxia-arreflexia cerebelosa-pie cavo-atrofia óptica-pérdida auditiva neurosensorial
|
| USH2A (1q41) | Cáncer de cuello uterino |
| WFS1 (4p16.1) |
Enfermedad de Charcot-Marie-Tooth dominante ligada al cromosoma X 1
|
| WHRN (9q32) |
Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X recesiva 4
|
| ABHD12 (20p11.21) |
Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X recesiva 5
|
| ABHD5 (3p21.33) |
Enfermedad de Charcot-Marie-Tooth tipo axonal 2V
|
| ACOX1 (17q25.1) |
Enfermedad de Charcot-Marie-Tooth dominante intermedia D
|
| ADCY1 (7p12.3) |
Enfermedad de Charcot-Marie-Tooth tipo 1B
|
| AIFM1 (Xq26.1) |
Enfermedad de Charcot-Marie-Tooth tipo 1E
|
| ALMS1 (2p13.1) |
Enfermedad de Charcot-Marie-Tooth tipo 2I
|
| ANLN (7p14.2) |
Enfermedad de Charcot-Marie-Tooth tipo 2J
|
| ARSB (5q14.1) |
Enfermedad de Charcot-Marie-Tooth tipo 4C
|
| ARSG (17q24.2) |
Enfermedad de Charcot-Marie-Tooth tipo 4D
|
| ATP1A3 (19q13.2) |
Enfermedad de Charcot-Marie-Tooth, tipo IA
|
| ATP2B2 (3p25.3) |
Colestasis intrahepática familiar progresiva, 4
|
| BCAP31 (Xq28) |
Síndrome neurológico, cutáneo y articular infantil crónico
|
| BTD (3p25.1) | Síndrome de Chudley-McCullough |
| CABP2 (11q13.2) | Síndrome de Coffin-Lowry |
| CACNA1D (3p21.1) |
Coloboma, osteopetrosis, microftalmia, macrocefalia, albinismo y sordera
|
| CD151 (11p15.5) | cáncer colorrectal |
| CD164 (6q21) |
Defecto de fosforilación oxidativa combinada tipo 11
|
| CDC14A (1p21.2) |
Defecto de fosforilación oxidativa combinada tipo 13
|
| CEP250 (20q11.22) |
Defecto de fosforilación oxidativa combinada tipo 24
|
| CEP78 (9q21.2) |
Distrofia de conos y bastones y pérdida auditiva 1
|
| CHD7 (8q12.2) |
Distrofia de conos y bastones y pérdida auditiva 2
|
| CIB2 (15q25.1) |
Distrofia endotelial hereditaria congénita de la córnea
|
| CISD2 (4q24) | Distrofia corneal endotelial de Fuchs, 4 |
| CLIC5 (6p21.1) | Distrofia corneal polimorfa posterior, 4 |
| CLPP (19p13.3) |
Síndrome de distrofia corneal-sordera perceptiva
|
| COL11A1 (1p21.1) |
Síndrome de sordera craneofacial y de mano
|
| COL2A1 (12q13.11) |
Displasia craneometafisaria autosómica recesiva
|
| COL4A3 (2q36.3) |
Síndrome de Crouzon-síndrome de acantosis nigricans
|
| COL4A4 (2q36.3) | Síndrome DOORS |
| COL4A5 (Xq22.3) | Síndrome de sordera distonía |
| COL4A6 (Xq22.3) |
Sordera con aplasia laberíntica, microtia y microdoncia
|
| COL9A1 (6q13) | Sordera ligada al cromosoma X 5 |
| DBH (9q34.2) |
Sordera autosómica dominante 39, con dentinogénesis imperfecta 1
|
| DCAF17 (2q31.1) |
Sordera, cardiopatías congénitas y embriotoxón posterior
|
| DCDC2 (6p22.3) | Deficiencia de alfa-manosidasa |
| DIABLO (12q24.31) |
Deficiencia de hialuronoglucosaminidasa
|
| DIAPH3 (13q21.2) | Enfermedad de Dejerine-Sottas |
| DMXL2 (15q21.2) | Síndrome de Delpire-McNeill |
| DNMT1 (19p13.2) | dentículos |
| EDN3 (20q13.32) | Dentinogénesis imperfecta tipo 2 |
| EFTUD2 (17q21.31) | Dentinogénesis imperfecta tipo 3 |
| ELMOD3 (2p11.2) |
Encefalopatía epiléptica y del desarrollo, 16
|
| EPS8 (12p12.3) |
Encefalopatía epiléptica y del desarrollo, 81
|
| EPS8L2 (11p15.5) |
Retraso del desarrollo con o sin facies dismórfica y autismo
|
| EYA1 (8q13.3) | Miocardiopatía dilatada 1J |
| FOXC1 (6p25.3) | Síndrome de Donnai-Barrow |
| GALNS (16q24.3) | Distonía 12 |
| GDF6 (8q22.1) | Síndrome EAST |
| GLB1 (3p22.3) |
Displasia ectodérmica 14, tipo cabello/diente con o sin hipohidrosis
|
| GNS (12q14.3) | Nevo epidérmico |
| GRXCR2 (5q32) |
Epidermólisis ampollosa simple tipo 7, con nefropatía y sordera
|
| GUSB (7q11.21) | Displasia epifisaria múltiple, 2 |
| HARS2 (5q31.3) | Displasia epifisaria múltiple, 3 |
| HGSNAT (8p11.21-11.1) | Displasia epifisaria múltiple, 6 |
| HOMER2 (15q25.2) |
Eritroqueratodermia variabilis y progresiva 1
|
| HSD17B4 (5q23.1) |
Eritroqueratodermia variabilis y progresiva 3
|
| HYAL1 (3p21.31) |
Nefropatía amiloide familiar con urticaria y sordera
|
| IDS (Xq28) |
Síndrome autoinflamatorio familiar por frío 1
|
| IDUA (4p16.3) | Epilepsia mioclónica infantil familiar |
| KITLG (12q21.32) | Meningioma familiar |
| LARS2 (3p21.31) | Convulsiones febriles familiares, 4 |
| LOXL3 (2p13.1) | Fibrocondrogénesis 1 |
| LRP2 (2q31.1) | Fibrocondrogénesis 2 |
| MAN2B1 (19p13.13) |
Glomeruloesclerosis focal y segmentaria 8
|
| MCM2 (3q21.3) | Gangliosidosis GM1 tipo 2 |
| MEOX1 (17q21.31) | Gangliosidosis GM1 tipo 3 |
| MET (7q31.2) | Síndrome GRACILE |
| MIR96 (7q32.2) |
Tumor de células germinales del testículo
|
| MPZ (1q23.3) |
Glaucoma, tensión normal, susceptibilidad a
|
| MYH7B (20q11.22) | Síndrome de Guillain-Barré familiar |
| MYO18B (22q12.1) | Síndrome H |
| NAGLU (17q21.2) |
Pérdida auditiva ligada al cromosoma X 1
|
| NARS2 (11q14.1) |
Pérdida auditiva ligada al cromosoma X 4
|
| NDRG1 (8q24.22) |
Pérdida auditiva ligada al cromosoma X 6
|
| NF2 (22q12.2) |
Pérdida auditiva, autosómica dominante 34, con o sin inflamación
|
| NLRP3 (1q44) |
Pérdida auditiva autosómica dominante 37
|
| NOG (17q22) |
Pérdida auditiva autosómica dominante 71
|
| OPA1 (3q29) |
Pérdida auditiva autosómica dominante 72
|
| OSBPL2 (20q13.33) |
Pérdida auditiva autosómica dominante 75
|
| OTOG (11p15.1) |
Pérdida auditiva autosómica dominante 78
|
| OTOGL (12q21.31) |
Pérdida auditiva autosómica dominante 81
|
| PCGF2 (17q12) |
Pérdida auditiva autosómica recesiva 106
|
| PEX1 (7q21.2) |
Pérdida auditiva autosómica recesiva 107
|
| PEX10 (1p36.32) |
Pérdida auditiva autosómica recesiva 108
|
| PEX11B (1q21.1) |
Pérdida auditiva autosómica recesiva 110
|
| PEX12 (17q12) |
Pérdida auditiva autosómica recesiva 113
|
| PEX13 (2p15) |
Pérdida auditiva autosómica recesiva 57
|
| PEX14 (1p36.22) |
Pérdida auditiva autosómica recesiva 94
|
| PEX16 (11p11.2) |
Pérdida auditiva autosómica recesiva 99
|
| PEX19 (1q23.2) | Síndrome de Heimler 1 |
| PEX2 (8q21.13) | Síndrome de Heimler 2 |
| PEX26 (22q11.21) | carcinoma hepatocelular |
| PEX3 (6q24.2) |
Sustancia hereditaria a las parálisis por presión
|
| PEX5 (12p13.31) |
Síndrome hereditario de neuropatía sensorial, sordera y demencia
|
| PEX6 (6p21.1) |
Síndrome de displasia ectodérmica hidrótica
|
| PEX7 (6q23.3) |
Síndrome de miopía alta-sordera neurosensorial
|
| Física (10p13) |
Enfermedad de Hirschsprung, susceptibilidad a, 2
|
| PNPT1 (2p16.1) |
Enfermedad de Hirschsprung, susceptibilidad a, 4
|
| POLR1C (6p21.1) |
Síndrome de hidropesía, acidosis láctica, anemia sideroblástica y fallo multisistémico
|
| POLR1D (13q12.2) | Hipercolanemia familiar 1 |
| RAI1 (17p11.2) |
Hiperpigmentación con o sin hipopigmentación, progresiva familiar.
|
| RMND1 (6q25.1) | Hipocondroplasia |
| ROR1 (1p31.3) |
Hipogonadismo hipogonadotrópico 5 con o sin anosmia
|
| RPS6KA3 (Xp22.12) | Leucodistrofia hipomielinizante 11 |
| S1PR2 (19p13.2) |
Síndrome de hipoparatiroidismo, sordera y enfermedad renal
|
| SCP2 (1p32.3) |
Síndrome del corazón izquierdo hipoplásico 1
|
| SERAC1 (6q25.3) | Ichthyosis, hystrix-like, with hearing loss |
| SGSH (17q25.3) | Infantile GM1 gangliosidosis |
| SH3TC2 (5q32) | Infantile onset spinocerebellar ataxia |
| SLC12A2 (5q23.3) | Intellectual disability, X-linked 19 |
| SLC22A4 (5q31.1) | Intervertebral disc disorder |
| SLC29A3 (10q22.1) | Isolated neonatal sclerosing cholangitis |
| SLC44A4 (6p21.33) | Jervell and Lange-Nielsen syndrome 1 |
| SLC52A2 (8q24.3) | Jervell and Lange-Nielsen syndrome 2 |
| SLC52A3 (20p13) | Keratitis fugax hereditaria |
| SLITRK6 (13q31.1) | Kilquist syndrome |
| SOX10 (22q13.1) |
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
|
| SYNE4 (19q13.12) |
Klippel-Feil syndrome 2, autosomal recessive
|
| TBC1D24 (16p13.3) | Kniest dysplasia |
| TCOF1 (5q32-33.1) |
Knuckle pads, deafness AND leukonychia syndrome
|
| TFAP2A (6p24.3) | Legg-Calve-Perthes disease |
| TMEM126A (11q14.1) | Levy-Hollister syndrome |
| TMEM132E (17q12) | Long QT syndrome 1 |
| TMPRSS3 (21q22.3) | Long QT syndrome 5 |
| TRRAP (7q22.1) |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
|
| TSPEAR (21q22.3) | Malignant tumor of urinary bladder |
| TUBB4B (9q34.3) |
Mandibulofacial dysostosis with alopecia
|
| TWNK (10q24.31) |
Mandibulofacial dysostosis-microcephaly syndrome
|
| UBR1 (15q15.2) | Marshall syndrome |
| VCAN (5q14.2-14.3) |
Melanoma, cutaneous malignant, susceptibility to, 8
|
| WBP2 (17q25.1) |
Migraine with or without aura, susceptibility to, 1
|
| ZNF469 (16q24.2) | Mitchell syndrome |
|
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
|
|
|
Mitochondrial complex III deficiency nuclear type 1
|
|
| Mucopolysaccharidosis type 6 | |
| Mucopolysaccharidosis type 7 | |
| Mucopolysaccharidosis, MPS-II | |
| Mucopolysaccharidosis, MPS-III-A | |
| Mucopolysaccharidosis, MPS-III-B | |
| Mucopolysaccharidosis, MPS-III-C | |
| Mucopolysaccharidosis, MPS-III-D | |
| Mucopolysaccharidosis, MPS-IV-A | |
| Mucopolysaccharidosis, MPS-IV-B | |
| Muenke syndrome | |
|
Multiple epiphyseal dysplasia, Beighton type
|
|
| Mutilating keratoderma | |
|
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
|
|
| Namaqualand hip dysplasia | |
| Nephronophthisis 19 | |
| Neurofibromatosis, type 2 | |
|
Neuropathy, congenital hypomyelinating, 2
|
|
|
Non-acquired combined pituitary hormone deficiency with spine abnormalities
|
|
| Oculodentodigital dysplasia | |
|
Oculodentodigital dysplasia, autosomal recessive
|
|
|
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
|
|
| Orthostatic hypotension 1 | |
| Osteofibrous dysplasia | |
| Otofaciocervical syndrome 1 | |
|
Otospondylomegaepiphyseal dysplasia, autosomal dominant
|
|
|
Otospondylomegaepiphyseal dysplasia, autosomal recessive
|
|
| PCWH syndrome | |
|
Palmoplantar keratoderma-deafness syndrome
|
|
| Papillary renal cell carcinoma type 1 | |
| Pendred syndrome | |
|
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
|
|
|
Peroxisome biogenesis disorder 12A (Zellweger)
|
|
|
Peroxisome biogenesis disorder 13A (Zellweger)
|
|
| Peroxisome biogenesis disorder 14B | |
|
Peroxisome biogenesis disorder 1A (Zellweger)
|
|
| Peroxisome biogenesis disorder 1B | |
|
Peroxisome biogenesis disorder 2A (Zellweger)
|
|
| Peroxisome biogenesis disorder 2B | |
|
Peroxisome biogenesis disorder 3A (Zellweger)
|
|
|
Peroxisome biogenesis disorder 4A (Zellweger)
|
|
| Peroxisome biogenesis disorder 4B | |
|
Peroxisome biogenesis disorder 5A (Zellweger)
|
|
| Peroxisome biogenesis disorder 5B | |
|
Peroxisome biogenesis disorder 6A (Zellweger)
|
|
| Peroxisome biogenesis disorder 6B | |
|
Peroxisome biogenesis disorder 7A (Zellweger)
|
|
| Peroxisome biogenesis disorder 7B | |
|
Peroxisome biogenesis disorder 8A (Zellweger)
|
|
| Peroxisome biogenesis disorder 8B | |
| Peroxisome biogenesis disorder 9B | |
|
Peroxisome biogenesis disorder type 3B
|
|
| Perrault syndrome 1 | |
| Perrault syndrome 2 | |
| Perrault syndrome 3 | |
| Perrault syndrome 4 | |
| Perrault syndrome 5 | |
|
Phosphoribosylpyrophosphate synthetase superactivity
|
|
| Phytanic acid storage disease | |
| Piebaldism | |
| Pili torti-deafness syndrome | |
| Pituitary adenoma 5, multiple types | |
| Platyspondylic dysplasia, Torrance type | |
|
Polyendocrine-polyneuropathy syndrome
|
|
| Progressive bulbar palsy of childhood | |
|
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
|
|
|
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
|
|
| Proximal symphalangism 1A | |
| RAPH BLOOD GROUP SYSTEM | |
|
Renal tubular acidosis with progressive nerve deafness
|
|
| Retinitis pigmentosa | |
| Retinitis pigmentosa 39 | |
| Retinitis pigmentosa 61 | |
| Retinitis pigmentosa 73 | |
| Rheumatoid arthritis | |
|
Rhizomelic chondrodysplasia punctata type 1
|
|
|
Rhizomelic chondrodysplasia punctata type 5
|
|
|
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer’s cramp syndrome
|
|
| Roussy-Lévy syndrome | |
|
SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN
|
|
| SMARCB1-related schwannomatosis | |
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
|
|
Severe X-linked mitochondrial encephalomyopathy
|
|
|
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
|
|
|
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
|
|
| Short QT syndrome type 2 | |
|
Sinoatrial node dysfunction and deafness
|
|
| Smith-Magenis syndrome | |
|
Spondyloepimetaphyseal dysplasia, Bieganski type
|
|
|
Spondyloepimetaphyseal dysplasia, Strudwick type
|
|
|
Spondyloepiphyseal dysplasia congenita
|
|
|
Spondyloepiphyseal dysplasia with metatarsal shortening
|
|
|
Spondyloepiphyseal dysplasia, Stanescu type
|
|
|
Spondylometaphyseal dysplasia – Sutcliffe type
|
|
| Spondyloperipheral dysplasia | |
|
Stapes ankylosis with broad thumbs and toes
|
|
| Sterol carrier protein 2 deficiency | |
| Stickler syndrome type 1 | |
| Stickler syndrome type 2 | |
| Stickler syndrome, type 4 | |
| Stickler syndrome, type 5 | |
|
Stickler syndrome, type I, nonsyndromic ocular
|
|
|
Susceptibility to mononeuropathy of the median nerve, mild
|
|
|
Symphalangism-brachydactyly syndrome
|
|
| Syndactyly type 3 | |
| Tarsal-carpal coalition syndrome | |
| Tetralogy of Fallot | |
| Thanatophoric dysplasia type 1 | |
| Thanatophoric dysplasia, type 2 | |
| Tietz syndrome | |
| Treacher Collins syndrome 1 | |
| Treacher Collins syndrome 2 | |
| Treacher Collins syndrome 3 | |
|
Triglyceride storage disease with ichthyosis
|
|
| Turnpenny-fry syndrome | |
| Type 2 diabetes mellitus | |
| Usher syndrome type 1 | |
| Usher syndrome type 1C | |
| Usher syndrome type 1D | |
| Usher syndrome type 1F | |
| Usher syndrome type 1G | |
| Usher syndrome type 1J | |
| Usher syndrome type 2A | |
| Usher syndrome type 2C | |
| Usher syndrome type 2D | |
| Usher syndrome type 3A | |
| Usher syndrome, type 1M | |
| Usher syndrome, type 4 | |
|
Vitreoretinopathy with phalangeal epiphyseal dysplasia
|
|
| Waardenburg syndrome type 1 | |
| Waardenburg syndrome type 2A | |
| Waardenburg syndrome type 2D | |
| Waardenburg syndrome type 2E | |
| Waardenburg syndrome type 3 | |
| Waardenburg syndrome type 4A | |
| Waardenburg syndrome type 4B | |
| Waardenburg syndrome type 4C | |
| Wagner syndrome | |
| Wolfram syndrome 1 | |
| Wolfram syndrome 2 | |
| Wolfram-like syndrome | |
| Woodhouse-Sakati syndrome | |
| X-linked Alport syndrome | |
|
Pérdida auditiva mixta ligada al cromosoma X con derrame perilinfático
|
|
| Sordera inducida por aminoglucósidos | |
|
Síndrome de anoftalmia/microftalmia-atresia esofágica
|
|
| Atrofia bulbosa hereditaria | |
|
Síndrome linfoproliferativo autoinmune tipo 1
|
|
|
Síndrome de onicodistrofia – sordera autosómica dominante
|
|
|
Pérdida auditiva autosómica dominante no sindrómica 48
|
|
|
Pérdida auditiva autosómica dominante no sindrómica 5
|
|
|
Pérdida auditiva autosómica dominante no sindrómica 51
|
|
|
Pérdida auditiva autosómica recesiva no sindrómica 16
|
|
|
Pérdida auditiva autosómica recesiva no sindrómica 25
|
|
|
Pérdida auditiva autosómica recesiva no sindrómica 59
|
|
|
Pérdida auditiva autosómica recesiva no sindrómica 79
|
|
|
Pérdida auditiva autosómica recesiva no sindrómica 84A
|
|
| Síndrome de Baraitser-Winter 1 | |
| Enfermedad de Bartter tipo 4A | |
|
Síndrome de atrofia óptica de Bosch-Boonstra-Schaaf
|
|
| Síndrome branquio-otorrenal 2 | |
|
Síndrome cerebrooculofacioesquelético 2
|
|
|
DFNA 3 Pérdida auditiva y sordera no sindrómica
|
|
| Síndrome de sordera-infertilidad | |
|
Síndrome de malformaciones del desarrollo, sordera y distonía
|
|
|
Vitreorretinopatía exudativa 2, ligada al cromosoma X
|
|
|
Eritroqueratodermia variabilis relacionada con GJB4
|
|
| Enfermedad hereditaria | |
| Pérdida auditiva y sordera hereditaria | |
|
Enfermedad de Hirschsprung, defectos cardíacos y disfunción autonómica
|
|
| Histidinemia | |
| Síndrome de Jervell y Lange-Nielsen 1 | |
| Síndrome de Jervell y Lange-Nielsen 2 | |
| Síndrome de QT largo 1 | |
| Síndrome de QT largo 5 | |
| Síndrome de MELAS | |
| Síndrome MERRF | |
| Disostosis mandibulofacial con alopecia | |
|
Pérdida auditiva neurosensorial mitocondrial no sindrómica
|
|
| Síndrome de Muenke | |
| Síndrome de Netherton | |
|
Deficiencia combinada de hormona pituitaria no adquirida con anomalías de la columna vertebral
|
|
| Sordera no sindrómica | |
|
Albinismo ocular con pérdida auditiva neurosensorial congénita
|
|
| Síndrome de Pendred | |
| Síndrome de sordera-pili torti | |
|
Acidosis tubular renal con sordera nerviosa progresiva
|
|
|
Trastorno de pérdida auditiva neurosensorial
|
|
| Síndrome de QT corto tipo 2 | |
| Insuficiencia espermatogénica 7 | |
| Síndrome de Stickler | |
| Síndrome de Usher tipo 1 | |
| Síndrome de Usher tipo 1C | |
| Síndrome de Usher tipo 1D | |
| Síndrome de Usher tipo 1F | |
| Síndrome de Usher tipo 1G | |
| Síndrome de Usher tipo 2A | |
| Síndrome de Usher tipo 2C | |
| Síndrome de Usher tipo 2D | |
| Síndrome de Usher tipo 3 | |
|
Síndrome de Usher, tipo IIC, digénico GPR98/PDZD7
|
|
| Síndrome de Waardenburg tipo 1 | |
| Síndrome de Waardenburg tipo 2D | |
| Síndrome de Waardenburg tipo 3 | |
| sordera ligada al cromosoma X | |
| Xeroderma pigmentoso grupo B | |
| Síndrome de Zimmermann-Laband 2 |
Panel de insuficiencia de médula ósea/ Anemia
Este estudio incluye 283 genes asociados a más de 425 condiciones.
$17,100 MN
Panel de insuficiencia de médula ósea/ Anemia
Tabla de genes y condiciones
| GENES | CONDICIONES |
| ACTB (7p22.1) | Anemia sideroblástica ligada al cromosoma X con ataxia |
| AP3D1 (19p13.3) | Aciduria 3-metilglutacónica tipo 2 |
| ATR (3q23) | Aciduria 3-metilglutacónica, tipo VIIA |
| BLOC1S6 (15q21.1) | Aciduria 3-metilglutacónica, tipo VIIB |
| BTK (Xq22.1) |
Trombocitopenia sindrómica asociada a ACTB
|
| CEBPA (19q13.11) |
HIPERPLASIA SUPRARRENAL MACRONODULAR INDEPENDIENTE DE ACTH 3
|
| CEBPE (14q11.2) |
Enfermedad de la hemoglobina H adquirida
|
| CSF2RA (Xp22.33) | Policitemia vera adquirida |
| CTSC (11q14.2) | leucemia linfoide aguda |
| CXCR2 (2q35) | leucemia mieloide aguda |
| DDX41 (5q35.3) | Carcinoma adrenocortical hereditario |
| DNASE2 (19p13.13) |
Síndrome de discapacidad intelectual ligado al cromosoma X y alfa talasemia
|
| DNMT3A (2p23.3) |
Trombocitopenia amegacariocítica congénita, 2
|
| EPCAM (2p21) | Displasia anauxética 1 |
| EPO (7q22.1) |
Anemia diseritropoyética congénita tipo 1a
|
| ERCC6L2 (9q22.32) |
Anemia diseritropoyética congénita, tipo IVb
|
| GATA2 (3q21.3) | Anemia aplásica |
| GINS1 (20p11.21) | Síndrome de ataxia-pancitopenia |
| HLTF (3q24) | Síndrome de ataxia-telangiectasia |
| HYOU1 (11q23.3) |
Síndrome linfoproliferativo autoinmune debido a haploinsuficiencia de CTLA4
|
| IFNGR2 (21q22.11) |
Síndrome linfoproliferativo autoinmune tipo 1
|
| JAK2 (9p24.1) |
Síndrome linfoproliferativo autoinmune tipo 4
|
| LAMTOR2 (1q22) |
Síndrome de pancitopenia autoinflamatoria por deficiencia de DNASE2
|
| MAD2L2 (1p36.22) |
Aplasia autosómica dominante y mielodisplasia
|
| MAGT1 (Xq21.1) |
Pérdida auditiva autosómica dominante no sindrómica 17
|
| MBD4 (3q21.3) | Osteopetrosis autosómica recesiva 1 |
| MRTFA (22q13.1-13.2) |
Neutropenia congénita grave autosómica recesiva debida a deficiencia de CSF3R
|
| MYSM1 (1p32.1) |
Neutropenia congénita grave autosómica recesiva debida a deficiencia de G6PC3
|
| NAF1 (4q32.2) |
Neutropenia congénita grave autosómica recesiva debida a deficiencia de JAGN1
|
| NPM1 (5q35.1) |
GRUPO SANGUÍNEO-INHIBIDOR LUTERANO
|
| PAX5 (9p13.2) | Síndrome de Baraitser-Winter 1 |
| PGM3 (6q14.1) |
Carcinoma de células basales, susceptibilidad a, 7
|
| POT1 (7q31.33) | Síndrome del nevo de Becker |
| PTPRJ (11p11.2) | Síndrome de Bernard Soulier |
| RAD23B (9q31.2) |
Síndrome de Bernard-Soulier, tipo A2, autosómico dominante
|
| RFWD3 (16q23.1) |
Síndrome de trombocitopenia ligada al cromosoma X y beta-talasemia
|
| RMRP (9p13.3) | Grupo sanguíneo, ER |
| RPL17 (18q21.1) | Síndrome de Bloom |
| RPL18 (19q13.33) |
Síndrome de insuficiencia de médula ósea 3
|
| RPL19 (17q12) |
Síndrome de insuficiencia de médula ósea 4
|
| RPL26 (17p13.1) |
Síndrome de insuficiencia de la médula ósea 5
|
| RPL27 (17q21.31) | Osteosarcoma óseo |
| RPL31 (2q11.2) |
Cáncer de mama y ovario, familiar, susceptibilidad a, 1
|
| RPL35 (9q33.3) |
Cáncer de mama y ovario, familiar, susceptibilidad a, 2
|
| RPL9 (4p14) |
Cáncer de mama y ovario, familiar, susceptibilidad a, 3
|
| RPS15A (16p12.3) |
Cáncer de mama y ovario, familiar, susceptibilidad a, 5
|
| RPS17 (15q25.2) | Síndrome de Budd-Chiari |
| RPS20 (8q12.1) | Trastorno relacionado con CBL |
| RPS27 (1q21.3) |
Máculas de color café con leche con estenosis pulmonar
|
| SAMD14 (17q21.33) | Síndrome cardiofaciocutáneo 2 |
| SAMD9L (7q21.2) |
Cataratas, hipoacusia, síndrome nefrótico y enterocolitis 1
|
| SBF2 (11p15.4) |
Cataratas, hipoacusia, síndrome nefrótico y enterocolitis 2
|
| SEPTIN6 (Xq24) |
Enfermedad celíaca, susceptibilidad a, 3
|
| SETBP1 (18q12.3) | Malformación arteriovenosa cerebral |
| SLC37A4 (11q23.3) |
Microangiopatía cerebrorretiniana con calcificaciones y quistes 1
|
| SMARCD2 (17q23.3) |
Microangiopatía cerebrorretiniana con calcificaciones y quistes 2
|
| SMPD1 (11p15.4) |
Microangiopatía cerebrorretiniana con calcificaciones y quistes 3
|
| SRP54 (14q13.2) |
Enfermedad de Charcot-Marie-Tooth tipo 4B2
|
| SRPRA (11q24.2) | papiloma del plexo coroideo |
| STN1 (10q24.33) | Síndrome de Chédiak-Higashi |
| TAFAZZIN (Xq28) | Síndrome de Cohen |
| TBXAS1 (7q34) | cáncer colorrectal |
| TCIRG1 (11q13.2) |
Cáncer colorrectal hereditario no asociado a poliposis, tipo 2
|
| TERC (3q26.2) |
Inmunodeficiencia combinada por deficiencia de GINS1
|
| TET2 (4q24) |
Inmunodeficiencia combinada por deficiencia de STIM1
|
| TSR2 (Xp11.22) |
Trombocitopenia amegacariocítica congénita 1
|
| TUBB1 (20q13.32) |
Diarrea congénita 5 con enteropatía en penacho
|
| USB1 (16q21) |
Trastorno congénito de la glicosilación, tipo ICC
|
| WDR1 (4p16.1) |
Trastorno congénito de la glicosilación, tipo IIw
|
| WIPF1 (2q31.1) |
Anemia diseritropoyética congénita tipo 4
|
| ZCCHC8 (12q24.31) |
Anemia diseritropoyética congénita, tipo II
|
| ABCB7 (Xq13.3) |
Síndrome de neutropenia-mielofibrosis-nefromegalia congénita
|
| ACD (16q22.1) |
Hamartoma congénito de músculo liso, con o sin hemihipertrofia
|
| ADA2 (22q11.1) | Síndrome de Cowden 7 |
| AK2 (1p35.1) | Neutropenia cíclica |
| ALAS2 (Xp11.21) |
Síndrome de predisposición a malignidad hematológica relacionada con DDX41
|
| ANKRD26 (10p12.1) | Deficiencia de ADN ligasa IV |
| AP3B1 (5q14.1) |
Síndrome de sordera, linfedema y leucemia
|
| ATM (11q22.3) |
Estomatocitosis hereditaria deshidratada 2
|
| ATRX (Xq21.1) |
Estomatocitosis hereditaria deshidratada con o sin pseudohipercalemia y/o edema perinatal
|
| BLM (15q26.1) |
Síndrome de malformaciones del desarrollo, sordera y distonía
|
| BLOC1S3 (19q13.32) | Anemia de Diamond-Blackfan 1 |
| BRCA1 (17q21.31) | Anemia de Diamond-Blackfan 10 |
| BRCA2 (13q13.1) | Anemia de Diamond-Blackfan 11 |
| BRIP1 (17q23.2) | Anemia de Diamond-Blackfan 12 |
| CBL (11q23.3) | Anemia de Diamond-Blackfan 13 |
| CDAN1 (15q15.2) |
Anemia de Diamond-Blackfan 14 con disostosis mandibulofacial
|
| CHEK2 (22q12.1) |
Anemia de Diamond-Blackfan 15 con disostosis mandibulofacial
|
| CLPB (11q13.4) | Anemia de Diamond-Blackfan 16 |
| CSF3R (1p34.3) | Anemia de Diamond-Blackfan 17 |
| CTC1 (17p13.1) | Anemia de Diamond-Blackfan 18 |
| CTLA4 (2q33.2) | Anemia de Diamond-Blackfan 19 |
| CXCR4 (2q22.1) | Anemia de Diamond-Blackfan 20 |
| DKC1 (Xq28) | Anemia de Diamond-Blackfan 3 |
| DNAJC21 (5p13.2) | Anemia de Diamond-Blackfan 4 |
| DTNBP1 (6p22.3) | Diamond-Blackfan anemia 5 |
| EFL1 (15q25.2) | Diamond-Blackfan anemia 6 |
| ELANE (19p13.3) | Diamond-Blackfan anemia 7 |
| ERCC4 (16p13.12) | Diamond-Blackfan anemia 8 |
| ETV6 (12p13.2) | Diamond-Blackfan anemia 9 |
| FANCA (16q24.3) | Diamond-Blackfan anemia-like |
| FANCB (Xp22.2) | Dyskeratosis congenita, X-linked |
| FANCC (9q22.32) |
Dyskeratosis congenita, autosomal dominant 1
|
| FANCD2 (3p25.3) |
Dyskeratosis congenita, autosomal dominant 2
|
| FANCE (6p21.31) |
Dyskeratosis congenita, autosomal dominant 3
|
| FANCF (11p14.3) |
Dyskeratosis congenita, autosomal dominant 6
|
| FANCG (9p13.3) |
Dyskeratosis congenita, autosomal recessive 1
|
| FANCI (15q26.1) |
Dyskeratosis congenita, autosomal recessive 2
|
| FANCL (2p16.1) |
Dyskeratosis congenita, autosomal recessive 3
|
| FANCM (14q21.2) |
Dyskeratosis congenita, autosomal recessive 5
|
| FAS (10q23.31) |
Dyskeratosis congenita, autosomal recessive 6
|
| FASLG (1q24.3) | Endometrial carcinoma |
| G6PC3 (17q21.31) | Epidermal nevus |
| GATA1 (Xp11.23) | Erythrocytosis, familial, 5 |
| GFI1 (1p22.1) |
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
|
| GLRX5 (14q32.13) | Familial cancer of breast |
| GP1BA (17p13.2) |
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
|
| HAX1 (1q21.3) |
Familial hemophagocytic lymphohistiocytosis 2
|
| HOXA11 (7p15.2) |
Familial hemophagocytic lymphohistiocytosis 3
|
| HPS1 (10q24.2) |
Familial hemophagocytic lymphohistiocytosis 4
|
| HPS3 (3q24) |
Familial hemophagocytic lymphohistiocytosis 5
|
| HPS4 (22q12.1) | Familial pancreatic carcinoma |
| HPS5 (11p15.1) | Familial prostate cancer |
| HPS6 (10q24.32) |
Fanconi anemia complementation group A
|
| IKZF1 (7p12.2) |
Fanconi anemia complementation group B
|
| ITGA2B (17q21.31) |
Fanconi anemia complementation group C
|
| ITK (5q33.3) |
Fanconi anemia complementation group D1
|
| JAGN1 (3p25.3) |
Fanconi anemia complementation group D2
|
| KCNN4 (19q13.31) |
Fanconi anemia complementation group E
|
| KDM1A (1p36.12) |
Fanconi anemia complementation group F
|
| KLF1 (19p13.13) |
Fanconi anemia complementation group G
|
| KRAS (12p12.1) |
Fanconi anemia complementation group I
|
| LIG4 (13q33.3) |
Fanconi anemia complementation group J
|
| LYST (1q42.3) |
Fanconi anemia complementation group L
|
| MECOM (3q26.2) |
Fanconi anemia complementation group N
|
| MLH1 (3p22.2) |
Fanconi anemia complementation group O
|
| MPIG6B (6p21.33) |
Fanconi anemia complementation group P
|
| MPL (1p34.2) |
Fanconi anemia complementation group Q
|
| MSH2 (2p21-16.3) |
Fanconi anemia complementation group R
|
| MSH6 (2p16.3) |
Fanconi anemia complementation group T
|
| MYH9 (22q12.3) |
Fanconi anemia complementation group U
|
| NBN (8q21.3) |
Fanconi anemia complementation group V
|
| NF1 (17q11.2) |
Fanconi anemia, complementation group S
|
| NHP2 (5q35.3) |
Fanconi anemia, complementation group W
|
| NOP10 (15q14) | Gastric cancer |
| NRAS (1p13.2) | Ghosal hematodiaphyseal dysplasia |
| PALB2 (16p12.2) | Glanzmann thrombasthenia 1 |
| PARN (16p13.12) | Glioma susceptibility 1 |
| PIEZO1 (16q24.3) | Glioma susceptibility 3 |
| PMS2 (7p22.1) |
Glucose-6-phosphate transport defect
|
| PRF1 (10q22.1) |
Granulocytopenia with immunoglobulin abnormality
|
| PTPN11 (12q24.13) | Griscelli syndrome type 2 |
| PUS1 (12q24.33) | Haim-Munk syndrome |
| RAB27A (15q21.3) | Hashimoto thyroiditis |
| RAC2 (22q13.1) |
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
|
| RAD51 (15q15.1) | Hepatocellular carcinoma |
| RAD51C (17q22) | Hereditary neutrophilia |
| RBM8A (1q21.1) |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
|
| RPL11 (1p36.11) | Hermansky-Pudlak syndrome 1 |
| RPL15 (3p24.2) | Hermansky-Pudlak syndrome 10 |
| RPL35A (3q29) | Hermansky-Pudlak syndrome 2 |
| RPL5 (1p22.1) | Hermansky-Pudlak syndrome 3 |
| RPS10 (6p21.31) | Hermansky-Pudlak syndrome 4 |
| RPS19 (19q13.2) | Hermansky-Pudlak syndrome 5 |
| RPS24 (10q22.3) | Hermansky-Pudlak syndrome 6 |
| RPS26 (12q13.2) | Hermansky-Pudlak syndrome 7 |
| RPS28 (19p13.2) | Hermansky-Pudlak syndrome 8 |
| RPS29 (14q21.3) | Hermansky-Pudlak syndrome 9 |
| RPS7 (2p25.3) | Heyn-Sproul-Jackson syndrome |
| RTEL1 (20q13.33) |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
|
| RUNX1 (21q22.12) | Immunodeficiency 23 |
| SAMD9 (7q21.2) | Immunodeficiency 28 |
| SBDS (7q11.21) | Immunodeficiency 66 |
| SEC23B (20p11.23) |
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
|
| SH2D1A (Xq25) |
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
|
| SLC19A2 (1q24.2) | Immunodeficiency 75 |
| SLC25A38 (3p22.1) |
Intellectual disability, autosomal dominant 29
|
| SLX4 (16p13.3) |
Intellectual disability-hypotonic facies syndrome, X-linked, 1
|
| SRP72 (4q12) | Juvenile myelomonocytic leukemia |
| STAT3 (17q21.2) | Kostmann syndrome |
| STIM1 (11p15.4) | LEOPARD syndrome 1 |
| STX11 (6q24.2) | Large congenital melanocytic nevus |
| STXBP2 (19p13.2) | Lazy leukocyte syndrome |
| TCN2 (22q12.2) |
Leukemia, acute lymphoblastic, susceptibility to, 3
|
| TERT (5p15.33) | Li-Fraumeni syndrome 1 |
| THPO (3q27.1) | Li-Fraumeni syndrome 2 |
| TINF2 (14q12) | Linear nevus sebaceous syndrome |
| TP53 (17p13.1) | Lung cancer |
| UBE2T (1q32.1) | Lymphatic malformation 6 |
| UNC13D (17q25.1) | Lymphoma, non-Hodgkin, familial |
| VPS13B (8q22.2) | Lymphoproliferative syndrome 1 |
| VPS45 (1q21.2) | Lynch syndrome 1 |
| WAS (Xp11.23) | Lynch syndrome 4 |
| WRAP53 (17p13.1) | Lynch syndrome 5 |
| XIAP (Xq25) | Lynch syndrome 8 |
| XRCC2 (7q36.1) | MIRAGE syndrome |
| ABCB6 (2q35) |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
|
| ABCG5 (2p21) |
Macrothrombocytopenia, isolated, 1, autosomal dominant
|
| ABCG8 (2p21) | Malignant tumor of urinary bladder |
| ACTN1 (14q24.1) | Medulloblastoma |
| ADA (20q13.12) |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
|
| ADAMTS13 (9q34.2) |
Melanoma, cutaneous malignant, susceptibility to, 9
|
| AK1 (9q34.11) | Melanoma, uveal, susceptibility to, 1 |
| ALDOA (16p11.2) | Metachondromatosis |
| AMMECR1 (Xq23) |
Metaphyseal chondrodysplasia, McKusick type
|
| AMN (14q32.32) |
Metaphyseal dysplasia without hypotrichosis
|
| ANK1 (8p11.21) |
Microcephaly, normal intelligence and immunodeficiency
|
| CASP10 (2q33.1) |
Microvascular complications of diabetes, susceptibility to, 2
|
| CBLIF (11q12.1) | Mirror movements 2 |
| CD36 (7q21.11) | Mismatch repair cancer syndrome 1 |
| CD40LG (Xq26.3) | Mismatch repair cancer syndrome 2 |
| CD59 (11p13) | Mismatch repair cancer syndrome 3 |
| CDC42 (1p36.12) | Mismatch repair cancer syndrome 4 |
| CDIN1 (15q14) |
Monocytopenia with susceptibility to infections
|
| CEP152 (15q21.1) |
Monosomy 7 myelodysplasia and leukemia syndrome 1
|
| CLCN7 (16p13.3) |
Monosomy 7 myelodysplasia and leukemia syndrome 2
|
| COL4A1 (13q34) | Muir-Torré syndrome |
| CPAP (13q12.12-12.13) | Multiple myeloma |
| CUBN (10p13) | Myelodysplastic syndrome |
| CYB5R3 (22q13.2) |
Myopathy, lactic acidosis, and sideroblastic anemia 1
|
| CYCS (7p15.3) | Myopathy, tubular aggregate, 1 |
| DHFR (5q14.1) | Nasopharyngeal carcinoma |
| DIAPH1 (5q31.3) | Neurocutaneous melanocytosis |
| EPB41 (1p35.3) | Neurofibromatosis, familial spinal |
| EPB42 (15q15.2) | Neurofibromatosis, type 1 |
| FCGR2C (1q23.3) | Neurofibromatosis-Noonan syndrome |
| FLI1 (11q24.3) |
Neutropenia, severe congenital, 1, autosomal dominant
|
| G6PD (Xq28) |
Neutropenia, severe congenital, 2, autosomal dominant
|
| GCLC (6p12.1) |
Neutropenia, severe congenital, 8, autosomal dominant
|
| GFI1B (9q34.13) |
Neutropenia, severe congenital, 9, autosomal dominant
|
| GNE (9p13.3) |
Neutrophil immunodeficiency syndrome
|
| GP1BB (22q11.21) | Niemann-Pick disease, type A |
| GP9 (3q21.3) | Niemann-Pick disease, type B |
| GPI (19q13.11) |
Nonarteritic anterior ischemic optic neuropathy, susceptibility to
|
| GPX1 (3p21.31) |
Nonimmune chronic idiopathic neutropenia of adults
|
| GSR (8p12) | Noonan syndrome 1 |
| GSS (20q11.22) | Noonan syndrome 3 |
| GYPC (2q14.3) | Noonan syndrome 6 |
| HBA1 (16p13.3) |
Normophosphatemic familial tumoral calcinosis
|
| HBA2 (16p13.3) |
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
|
| HBB (11p15.4) | Pancreatic cancer, susceptibility to, 2 |
| HBD (11p15.4) | Pancreatic cancer, susceptibility to, 3 |
| HFE (6p22.2) | Pancreatic cancer, susceptibility to, 4 |
| HK1 (10q22.1) | Pancytopenia due to IKZF1 mutations |
| HMOX1 (22q12.3) |
Pancytopenia-developmental delay syndrome
|
| HSPA9 (5q31.2) | Papillon-Lefèvre syndrome |
| IL2RG (Xq13.1) |
Pelger-Huet-like anomaly and episodic fever with abdominal pain
|
| ITGB3 (17q21.32) | Periodontitis, aggressive 1 |
| KDSR (18q21.33) | Phosphate transport defect |
| KIT (4q12) | Platelet-type bleeding disorder 16 |
| LPIN2 (18p11.31) | Poikiloderma with neutropenia |
| MRE11 (11q21) | Premature ovarian failure 15 |
| MTR (1q43) | Premature ovarian failure 17 |
| MTRR (5p15.31) |
Primary familial polycythemia due to EPO receptor mutation
|
| NBEAL2 (3p21.31) |
Primary immunodeficiency syndrome due to p14 deficiency
|
| NFKB1 (4q24) | Primary myelofibrosis |
| NT5C3A (7p14.3) | Pseudo von Willebrand disease |
| PC (11q13.2) |
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
|
| PDHA1 (Xp22.12) |
Síndrome de fibrosis pulmonar y/o insuficiencia de médula ósea, relacionado con los telómeros, 8
|
| PDHX (11p13) |
Síndrome de fibrosis pulmonar y/o insuficiencia de médula ósea, relacionado con los telómeros, 9
|
| PFKM (12q13.11) |
Fibrosis pulmonar y/o insuficiencia de la médula ósea, relacionada con los telómeros, 1
|
| PGK1 (Xq21.1) |
Fibrosis pulmonar y/o insuficiencia de la médula ósea, relacionada con los telómeros, 2
|
| PKLR (1q22) |
Fibrosis pulmonar y/o insuficiencia de la médula ósea, relacionada con los telómeros, 3
|
| PLAU (10q22.2) |
Fibrosis pulmonar y/o insuficiencia de la médula ósea, relacionada con los telómeros, 4
|
| RBBP8 (18q11.2) |
Fibrosis pulmonar y/o insuficiencia de la médula ósea, relacionada con los telómeros, 5
|
| REN (1q32.1) |
Síndrome de aplasia radial-trombocitopenia
|
| RHAG (6p12.3) |
Sinostosis radiocubital con trombocitopenia amegacariocítica 1
|
| RIT1 (1q22) |
Sinostosis radiocubital con trombocitopenia amegacariocítica 2
|
| SLC19A3 (2q36.3) | Disgenesia reticular |
| SLC25A19 (17q25.1) | Síndrome de Revesz |
| SLC2A1 (1p34.2) |
Enfermedad autoinmune multisistémica de inicio temprano relacionada con STAT3
|
| SLC35C1 (11p11.2) | Síndrome de Schinzel-Giedion |
| SLC4A1 (17q21.31) | Síndrome de Seckel 1 |
| SLFN14 (17q12) | Síndrome de Shwachman-Diamond 1 |
| SPTA1 (1q23.1) | Síndrome de Shwachman-Diamond 2 |
| SPTB (14q23.3) | Anemia sideroblástica 2 |
| TMPRSS6 (22q12.3) | Anemia sideroblástica 3 |
| TPI1 (12p13.31) | Síndrome de Sneddon |
| TPK1 (7q35) |
Síndrome de espasticidad-ataxia-anomalías de la marcha
|
| TRNT1 (3p26.2) | Deficiencia de gránulos específicos 1 |
| WNT4 (1p36.12) | Deficiencia de gránulos específicos 2 |
| XK (Xp21.1) | Insuficiencia espermatogénica 28 |
| YARS2 (12p11.21) | Fallos espermatogénicos 50 |
| Ataxia espinocerebelosa 49 | |
| Síndrome de Stormorken | |
|
Disfunción del metabolismo del surfactante, pulmonar, 4
|
|
| Lupus eritematoso sistémico | |
|
Síndrome de sobrecrecimiento de Tatton-Brown-Rahman
|
|
| Trombocitemia 1 | |
| Trombocitemia 2 | |
| Trombocitemia 3 | |
| Trombocitopenia 1 | |
| Trombocitopenia 10 | |
| Trombocitopenia 2 | |
| Trombocitopenia 5 | |
| Trombocitopenia 9 | |
|
Trombocitopenia ligada al cromosoma X, con o sin anemia diseritropoyética
|
|
|
Trombocitopenia, anemia y mielofibrosis
|
|
| Cáncer de tiroides no medular, 2 | |
| Síndrome de Toriello-Lacassie-Droste | |
| Deficiencia de transcobalamina II | |
|
Síndrome mieloproliferativo transitorio
|
|
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Síndrome de predisposición tumoral 2
|
|
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Síndrome de predisposición tumoral 3
|
|
| Diabetes mellitus tipo 1 12 | |
| Vasculitis por deficiencia de ADA2 | |
| Síndrome WHIM 1 | |
| Síndrome WHIM 2 | |
| Tumor de Wilms 1 | |
| Síndrome de Wiskott-Aldrich | |
| Síndrome de Wiskott-Aldrich 2 | |
|
agammaglobulinemia ligada al cromosoma X
|
|
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Agammaglobulinemia ligada al cromosoma X con deficiencia de la hormona del crecimiento
|
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Anemia diseritropoyética ligada al cromosoma X con plaquetas anormales y neutropenia
|
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Protoporfiria eritropoyética ligada al cromosoma X
|
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Inmunodeficiencia ligada al cromosoma X con defecto de magnesio, infección por el virus de Epstein-Barr y neoplasia
|
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Enfermedad linfoproliferativa ligada al cromosoma X debida a deficiencia de SH2D1A
|
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Enfermedad linfoproliferativa ligada al cromosoma X debida a deficiencia de XIAP
|
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Neutropenia congénita grave ligada al cromosoma X
|
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Anemia sideroblástica ligada al cromosoma X 1
|
|
| Síndrome progeroide XFE | |
| Xeroderma pigmentoso, grupo F | |
| Pseudohipercalemia familiar | |
| Enfermedad de Alzheimer tipo 1 | |
| Microcefalia letal Amish | |
|
Anemia hemolítica no esferocítica por deficiencia de G6PD
|
|
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Trastorno similar a la ataxia-telangiectasia 1
|
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Púrpura trombocitopénica autoinmune
|
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Pérdida auditiva no sindrómica autosómica dominante 1
|
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Anemia sideroblástica autosómica dominante
|
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Enfermedad de los ganglios basales sensible a la biotina
|
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Trastorno hemorrágico de tipo plaquetario, 21
|
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Trastorno hemorrágico de tipo plaquetario, 24
|
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Grupo sanguíneo, sistema de Gerbich
|
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Enfermedad de vasos pequeños del cerebro 1 con o sin anomalías oculares
|
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Breast-ovarian cancer, familial, susceptibility to, 3
|
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| COPD, severe early onset | |
|
Cerebroretinal microangiopathy with calcifications and cysts 1
|
|
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Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
|
|
| Chédiak-Higashi syndrome | |
| Cohen syndrome | |
| Colorectal cancer | |
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Colorectal cancer, hereditary nonpolyposis, type 2
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Combined immunodeficiency due to STIM1 deficiency
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Combined immunodeficiency, X-linked
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Congenital dyserythropoietic anemia type type 1B
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Congenital neutropenia-myelofibrosis-nephromegaly syndrome
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Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
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Constitutional megaloblastic anemia with severe neurologic disease
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| Cowden syndrome 7 | |
| Cutaneous mastocytosis | |
| DNA ligase IV deficiency | |
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Deficiency of cytochrome-b5 reductase
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Dehydrated hereditary stomatocytosis 2
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Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
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| Delta-beta-thalassemia | |
| Diamond-Blackfan anemia 1 | |
| Diamond-Blackfan anemia 10 | |
| Diamond-Blackfan anemia 12 | |
| Diamond-Blackfan anemia 13 | |
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Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
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| Diamond-Blackfan anemia 3 | |
| Down syndrome | |
| Dystonia 9 | |
| Elliptocytosis 1 | |
| Elliptocytosis 3 | |
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Erythrokeratodermia variabilis et progressiva 4
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Gamma-glutamylcysteine synthetase deficiency
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Glutathione synthetase deficiency without 5-oxoprolinuria
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| Gluthathione peroxidase deficiency | |
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Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
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| Glycogen storage disease, type VII | |
| Gray platelet syndrome | |
| HNSHA due to aldolase A deficiency | |
| Heinz body anemia | |
| Hemoglobin H disease | |
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Hemoglobin Lepore-beta-thalassemia syndrome
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Hemolytic anemia due to adenylate kinase deficiency
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Hemolytic anemia due to glucophosphate isomerase deficiency
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Hemolytic anemia due to glutathione reductase deficiency
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Hemolytic anemia due to hexokinase deficiency
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Hemolytic anemia due to pyrimidine 5′ nucleotidase deficiency
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| Hereditary intrinsic factor deficiency | |
| Hereditary spherocytosis type 1 | |
| Hereditary spherocytosis type 3 | |
| Hereditary spherocytosis type 4 | |
| Hereditary spherocytosis type 5 | |
| Hyper-IgM syndrome type 1 | |
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Hypopigmentation, organomegaly, and delayed myelination and development
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| Imerslund-Grasbeck syndrome type 1 | |
| Imerslund-Grasbeck syndrome type 2 | |
|
Immunodeficiency, common variable, 12
|
|
| Iron-refractory iron deficiency anemia | |
| Jawad syndrome | |
| Leukocyte adhesion deficiency type II | |
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Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
|
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| Majeed syndrome | |
| Malaria, susceptibility to | |
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McLeod neuroacanthocytosis syndrome
|
|
| Methylcobalamin deficiency type cblG | |
|
Microcephaly 6, primary, autosomal recessive
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Microvascular complications of diabetes, susceptibility to, 7
|
|
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Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
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Myopathy, lactic acidosis, and sideroblastic anemia 2
|
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| Neural tube defects, folate-sensitive | |
| Noonan syndrome 8 | |
| Platelet-type bleeding disorder 15 | |
| Platelet-type bleeding disorder 17 | |
| Platelet-type bleeding disorder 20 | |
| Primary CD59 deficiency | |
| Pyruvate carboxylase deficiency | |
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Pyruvate dehydrogenase E1-alpha deficiency
|
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Pyruvate dehydrogenase E3-binding protein deficiency
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Deficiencia de piruvato quinasa en glóbulos rojos
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Disgenesia tubular renal de origen genético
|
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| Rh nulo, tipo regulador | |
| Síndrome de SERKAL | |
| Síndrome de Seckel 5 | |
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Inmunodeficiencia combinada grave, autosómica recesiva, negativa para células T, negativa para células B, negativa para células NK, debido a deficiencia de adenosina desaminasa
|
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| Sialuria | |
| Sitosterolemia 1 | |
| Sitosterolemia 2 | |
| Trombocitopenia 4 | |
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Deficiencia de triosafosfato isomerasa
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| Síndrome de Upshaw-Schulman | |
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Hemolytic anemia due to glucophosphate isomerase deficiency
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Hemolytic anemia due to glutathione reductase deficiency
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Hemolytic anemia due to hexokinase deficiency
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Hemolytic anemia due to pyrimidine 5′ nucleotidase deficiency
|
|
| Hereditary intrinsic factor deficiency | |
| Hereditary neutrophilia | |
| Hereditary spherocytosis type 1 | |
| Hereditary spherocytosis type 3 | |
| Hereditary spherocytosis type 4 | |
| Hereditary spherocytosis type 5 | |
|
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
|
|
| Hermansky-Pudlak syndrome 1 | |
| Hermansky-Pudlak syndrome 2 | |
| Hermansky-Pudlak syndrome 3 | |
| Hermansky-Pudlak syndrome 4 | |
| Hermansky-Pudlak syndrome 5 | |
| Hermansky-Pudlak syndrome 6 | |
| Hermansky-Pudlak syndrome 7 | |
| Hermansky-Pudlak syndrome 8 | |
| Hyper-IgM syndrome type 1 | |
|
Hypopigmentation, organomegaly, and delayed myelination and development
|
|
| Imerslund-Grasbeck syndrome type 1 | |
| Imerslund-Grasbeck syndrome type 2 | |
|
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
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|
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Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
|
|
|
Immunodeficiency, common variable, 12
|
|
| Iron-refractory iron deficiency anemia | |
| Jawad syndrome | |
| Juvenile myelomonocytic leukemia | |
| Kostmann syndrome | |
| Leukocyte adhesion deficiency type II | |
| Li-Fraumeni syndrome 2 | |
| Lung cancer | |
| Lymphoma, non-Hodgkin, familial | |
| Lymphoproliferative syndrome 1 | |
|
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
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Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
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| Majeed syndrome | |
| Malaria, susceptibility to | |
|
McLeod neuroacanthocytosis syndrome
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| Medulloblastoma | |
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Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
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| Methylcobalamin deficiency type cblG | |
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Microcephaly 6, primary, autosomal recessive
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Microcephaly, normal intelligence and immunodeficiency
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Microvascular complications of diabetes, susceptibility to, 7
|
|
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Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
|
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| Mismatch repair cancer syndrome 2 | |
| Mismatch repair cancer syndrome 3 | |
| Mismatch repair cancer syndrome 4 | |
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Myopathy, lactic acidosis, and sideroblastic anemia 1
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Myopathy, lactic acidosis, and sideroblastic anemia 2
|
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| Neural tube defects, folate-sensitive | |
| Neurofibromatosis-Noonan syndrome | |
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Neutropenia, severe congenital, 1, autosomal dominant
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Neutropenia, severe congenital, 9, autosomal dominant
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Neutrophil immunodeficiency syndrome
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Nonarteritic anterior ischemic optic neuropathy, susceptibility to
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Nonimmune chronic idiopathic neutropenia of adults
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| Noonan syndrome 1 | |
| Noonan syndrome 8 | |
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Normophosphatemic familial tumoral calcinosis
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Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
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| Pancytopenia due to IKZF1 mutations | |
| Platelet-type bleeding disorder 15 | |
| Platelet-type bleeding disorder 16 | |
| Platelet-type bleeding disorder 17 | |
| Platelet-type bleeding disorder 20 | |
| Premature ovarian failure 15 | |
| Premature ovarian failure 17 | |
| Primary CD59 deficiency | |
| Pyruvate carboxylase deficiency | |
|
Pyruvate dehydrogenase E1-alpha deficiency
|
|
|
Pyruvate dehydrogenase E3-binding protein deficiency
|
|
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Deficiencia de piruvato quinasa en glóbulos rojos
|
|
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Síndrome de aplasia radial-trombocitopenia
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Sinostosis radiocubital con trombocitopenia amegacariocítica 1
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Sinostosis radiocubital con trombocitopenia amegacariocítica 2
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Disgenesia tubular renal de origen genético
|
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| Disgenesia reticular | |
| Rh nulo, tipo regulador | |
| Síndrome de SERKAL | |
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Enfermedad autoinmune multisistémica de inicio temprano relacionada con STAT3
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| Síndrome de Seckel 5 | |
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Inmunodeficiencia combinada grave, autosómica recesiva, negativa para células T, negativa para células B, negativa para células NK, debido a deficiencia de adenosina desaminasa
|
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| Síndrome de Shwachman-Diamond 1 | |
| Síndrome de Shwachman-Diamond 2 | |
| Sialuria | |
| Anemia sideroblástica 2 | |
| Anemia sideroblástica 3 | |
| Sitosterolemia 1 | |
| Sitosterolemia 2 | |
| Síndrome de Sneddon | |
| Trombocitemia 1 | |
| Trombocitemia 2 | |
| Trombocitopenia 1 | |
| Trombocitopenia 2 | |
| Trombocitopenia 4 | |
| Trombocitopenia 5 | |
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Trombocitopenia, anemia y mielofibrosis
|
|
| Deficiencia de transcobalamina II | |
|
Deficiencia de triosafosfato isomerasa
|
|
| Diabetes mellitus tipo 1 12 | |
| Síndrome de Upshaw-Schulman | |
| Síndrome WHIM 1 | |
|
Enfermedad linfoproliferativa ligada al cromosoma X debida a deficiencia de SH2D1A
|
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Enfermedad linfoproliferativa ligada al cromosoma X debida a deficiencia de XIAP
|
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Anemia sideroblástica ligada al cromosoma X 1
|
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Anemia sideroblástica ligada al cromosoma X con ataxia
|
Otros paneles de interes
Contamos con un gran listado de estudios de secuenciación NGS. Estos estudios se recomiendan para la identificación puntual de mutaciones responsables del cuadro clínico del paciente.
Todos nuestros estudios de NGS Incluyen el panel de genes recomendados por la American College of Medical Genetics and Genomics (ACMG).
Panel de interes
Tabla de genes y condiciones
| Nombre del estudio | Precio MN |
| Panel Inmunológico. Panel de Secuenciación NGS de 560 genes asociados a errores innatos de inmunidad humana (IEI) que consiste en un grupo grande y diverso de trastornos que presentan una característica clínica común; inmunidad innata y adaptativa suprimida. Las variantes causales de los genes incluidos con mayor frecuencia confieren susceptibilidad a enfermedades infecciosas, enfermedades autoinflamatorias, neoplasias, autoinmunidad o alergias. |
$17,100 |
| Panel Neurodegenerativo. En este estudio se analizan 113 genes relacionadas Alzheimer familiar tardío y temprano, susceptibilidad al Alzheimer , enfermedad priónica, trastornos neurodegenerativos hereditarios (Leucoencefalopatía, Demencia con cuerpos de Lewy, Demencia frontotemporal, Ataxia hereditaria, Enfermedad de Pick y Parálisis supranuclear progresiva), Esclerosis Lateral Amiotrófica , Enfermedad de Parkinson de aparición temprana y tardía en adultos: causas monogénicas, Enfermedad de Parkinson de inicio juvenil: causas monogénicas, factores de riesgo genéticos sospechosos de la enfermedad de Parkinson. adicionalmente se incluye un reporte NeuroLIFE con más de 50 genes relacionados a factores de riesgo y predisposición genética al deterioro neurodegenerativo más ADNFarma. |
$14,100 |
| Panel diabetes Juvenil
Panel de 71 genes y 14 condicines. Este análisis incluye diabetes tipo 1 y diabetes tipo MODY (Maturity Onset Diabetes of the Young). Incluye Determinacion HLA-DR3. |
$17,100 |
| Secuenciación para Síndrome de Rett. Secuenciación de regiones exónicas completa de los genes MECP2, CDKL5 y NTNG1. Técnica: NGS por Illumina NovaSeq 6000. |
$13,100 |
| Secuenciación para Síndrome de Marfan. Secuenciación de regiones exónicas completa de los genes TGFBR1, TGFBR2 y FBN1. |
$13,100 |
| Secuenciación. Distrofia muscular de Duchenne y Becker. Secuenciación de regiones exónicas completa del gen DMD. Técnica: NGS |
$13,100 |
| Secuencia y delección. Distrofia muscular de Duchenne y Becker. Diagnóstico completo. Secuenciación de regiones exónicas completa del gen DMD y Detección de duplicaciones y deleciones. Técnica: NGS y MLPA. |
$21,000 |
| Enfermedad de Fibrosis Quística por Secuenciación. Secuenciación de regiones exónicas completa del gen CFTR. Técnica: NGS por Illumina NovaSeq 6000. |
$13,100 |
| Panel de portadores genéticos. Panel de Secuenciación NGS de 445 genes asociados a todos los trastornos graves y prevalentes observados en todos los grupos étnicos, así como los trastornos recomendados por el American College of Obstetricians and Gynecologists (ACOG) y el American College of Medical Genetics and Genomics (ACMG). Integra un análisis mejorado de atrofia muscular espinal que ayudan a identificar a portadores silenciosos y un análisis exhaustivo del síndrome del cromosoma X frágil, incluidas las interrupciones AGG, así como también trastornos ligados al cromosoma X y 21. |
$14,200 |
| Tipificación HLA Secuenciación. Estudio para compatibilidad de trasplantes a través de la tipificación de HLA CLASE I (A, B, C) Y CLASE II (DRB1, DR3/4/5, DQA/DQB, DPA/DPB) Técnica: NGS por Illumina NovaSeq 6000. |
$10,600 |
Tipo de muestra utilizada:
Tiempo de entrega de resultados:
45 días Hábiles
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