qGenEx DI. Panel Discapacidad Intelectual

Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.

qGenEx DI, analiza 846 genes asociados a discapacidad intelectual usando secuenciación de exoma completo mediante NGS.

Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
GeneMedian coverage% covered > 10x% covered > 20xAssociated Phenotype description and OMIM disease ID 
A2ML1154.810.99No OMIM phenotype314390
A2ML1154.810.99Noonan-like syndrome (Vissers et al, 2015)314390
A2ML1154.810.99Noonan syndrome (van Trier -2015 Int J Pediatr Otorhinolaryngol, epub)314390
A2ML1154.810.99Otitis media, susceptibility to (Santos-Cortez -2015 Nat Genet 47,917)314390
AARS144.70.990.99Charcot-Marie-Tooth disease, axonal, type 2N,613287
AARS144.70.990.99Epileptic encephalopathy, early infantile, 29616339
ABAT10310.99GABA-transaminase deficiency,613163
ABCC9177.110.99Atrial fibrillation, familial, 12614050
ABCC9177.110.99Cardiomyopathy, dilated, 1O,608569
ABCC9177.110.99Hypertrichotic osteochondrodysplasia,239850
ABCD1960.770.68Adrenoleukodystrophy,300100
ABCD1960.770.68Adrenomyeloneuropathy, adult,300100
ABCD4155.20.990.98Methylmalonic aciduria and homocystinuria, cblJ type,614857
ABHD5265.70.990.99Chanarin-Dorfman syndrome,275630
ACAD91540.990.96Mitochondrial complex I deficiency due to ACAD9 deficiency,611126
ACO2138.60.960.92Infantile cerebellar-retinal degeneration,614559
ACO2138.60.960.92?Optic atrophy 9616289
ACOX1186.311Peroxisomal acyl-CoA oxidase deficiency,264470
ACSF3146.510.99Combined malonic and methylmalonic aciduria,614265
ACSL4127.60.960.91Mental retardation, X-linked 63300387
ACTB134.10.980.93Baraitser-Winter syndrome 1243310
ACTB134.10.980.93?Dystonia, juvenile-onset,607371
ACTG1139.411Baraitser-Winter syndrome 2614583
ACTG1139.411Deafness, autosomal dominant 20/26,604717
ACVR1180.110.99Fibrodysplasia ossificans progressiva,135100
ACY1155.90.990.98Aminoacylase 1 deficiency,609924
ADAR131.710.99Aicardi-Goutieres syndrome 6615010
ADAR131.710.99Dyschromatosis symmetrica hereditaria,127400
ADAT383.40.980.95Mental retardation, autosomal recessive 36615286
ADCK31460.990.98Coenzyme Q10 deficiency, primary, 4612016
ADK106.10.980.93Hypermethioninemia due to adenosine kinase deficiency,614300
ADNP280.510.99Helsmoortel-van der Aa syndrome,615873
ADSL205.910.99Adenylosuccinase deficiency,103050
AFF2156.10.990.99Mental retardation, X-linked, FRAXE type,309548
AFF41300.990.96CHOPS syndrome,616368
AGA154.111Aspartylglucosaminuria,208400
AGPAT2120.10.980.92Lipodystrophy, congenital generalized, type 1608594
AHCY138.610.99Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase,613752
AHDC11360.990.97Xia-Gibbs syndrome,615829
AHI1151.90.980.94Joubert syndrome-3,608629
AIFM1133.510.99Combined oxidative phosphorylation deficiency 6300816
AIFM1133.510.99Cowchock syndrome,310490
AIFM1133.510.99Deafness, X-linked 5300614
AIMP196.40.970.9Leukodystrophy, hypomyelinating, 3260600
AK1130.70.990.99Hemolytic anemia due to adenylate kinase deficiency,612631
AKT383.70.970.89Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937
ALDH18A114310.99Cutis laxa, autosomal dominant 3616603
ALDH18A114310.99Cutis laxa, autosomal recessive, type IIIA,219150
ALDH18A114310.99Spastic paraplegia 9A, autosomal dominant,601162
ALDH18A114310.99Spastic paraplegia 9B, autosomal recessive,616586
ALDH3A2157.410.99Sjogren-Larsson syndrome,270200
ALDH4A1130.30.990.98Hyperprolinemia, type II,239510
ALDH5A192.30.90.82Succinic semialdehyde dehydrogenase deficiency,271980
ALG160.30.530.49Congenital disorder of glycosylation, type Ik,608540
ALG11182.710.99Congenital disorder of glycosylation, type Ip,613661
ALG12167.311Congenital disorder of glycosylation, type Ig,607143
ALG13107.40.980.94Epileptic encephalopathy, early infantile, 36300884
ALG2119.810.99Myasthenic syndrome, congenital, 14 with tubular aggregates,616228
ALG2119.810.99?Congenital disorder of glycosylation, type Ii,607906
ALG3125.810.99Congenital disorder of glycosylation, type Id,601110
ALG6104.10.950.92Congenital disorder of glycosylation, type Ic,603147
ALG9136.20.990.98Congenital disorder of glycosylation, type Il,608776
ALG9136.20.990.98Gillessen-Kaesbach-Nishimura syndrome,263210
ALMS1197.70.990.99Alstrom syndrome,203800
ALX1171.30.990.96?Frontonasal dysplasia 3613456
ALX4132.60.960.89Frontonasal dysplasia 2613451
ALX4132.60.960.89Parietal foramina 2609597
ALX4132.60.960.89{Craniosynostosis 5 susceptibility to},615529
AMPD2145.30.990.98Pontocerebellar hypoplasia, type 9615809
AMPD2145.30.990.98?Spastic paraplegia 63615686
AMT17410.99Glycine encephalopathy,605899
ANK3187.90.990.99?Mental retardation, autosomal recessive, 37615493
ANKH121.411Chondrocalcinosis 2118600
ANKH121.411Craniometaphyseal dysplasia,123000
ANKRD11107.90.970.93KBG syndrome,148050
ANO10126.60.990.96Spinocerebellar ataxia, autosomal recessive 10613728
ANTXR1141.90.980.96GAPO syndrome,230740
ANTXR1141.90.980.96{Hemangioma, capillary infantile, susceptibility to},602089
AP1S2750.790.68Mental retardation, X-linked syndromic 5304340
AP3B1111.50.970.91Hermansky-Pudlak syndrome 2608233
AP4B116610.99Spastic paraplegia 47 autosomal recessive,614066
AP4E1117.30.990.96Spastic paraplegia 51 autosomal recessive,613744
AP4E1117.30.990.96Stuttering, familial persistent, 1184450
AP4M1125.90.990.97Spastic paraplegia 50 autosomal recessive,612936
AP4S178.30.740.68Spastic paraplegia 52 autosomal recessive,614067
APTX136.60.930.9Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia,208920
ARFGEF2179.20.990.98Periventricular heterotopia with microcephaly,608097
ARG1172.111Argininemia,207800
ARHGAP31128.30.990.98Adams-Oliver syndrome 1100300
ARHGEF6168.80.950.93Mental retardation, X-linked 46300436
ARHGEF9109.70.990.98Epileptic encephalopathy, early infantile, 8300607
ARID1A155.10.950.9Coffin-Siris syndrome 2614607
ARID1B1570.950.9Coffin-Siris syndrome 1135900
ARL13B100.40.990.92Joubert syndrome 8612291
ARL6990.970.91Bardet-Biedl syndrome 3600151
ARL6990.970.91?Retinitis pigmentosa 55613575
ARL6990.970.91{Bardet-Biedl syndrome 1 modifier of},209900
ARSE108.80.980.93Chondrodysplasia punctata, X-linked recessive,302950
ARX39.10.820.7Epileptic encephalopathy, early infantile, 1308350
ARX39.10.820.7Hydranencephaly with abnormal genitalia,300215
ARX39.10.820.7Lissencephaly, X-linked 2300215
ARX39.10.820.7Mental retardation, X-linked 29 and others,300419
ARX39.10.820.7Partington syndrome,309510
ARX39.10.820.7Proud syndrome,300004
ASL118.40.990.98Argininosuccinic aciduria,207900
ASNS97.80.970.91Asparagine synthetase deficiency,615574
ASPA151.70.990.92Canavan disease,271900
ASPM110.90.970.92Microcephaly 5 primary, autosomal recessive,608716
ASXL1168.40.990.98Bohring-Opitz syndrome,605039
ASXL1168.40.990.98Myelodysplastic syndrome, somatic,614286
ASXL3178.50.990.99Bainbridge-Ropers syndrome,615485
ATCAY166.610.99Ataxia, cerebellar, Cayman type,601238
ATIC134.70.990.98AICA-ribosiduria due to ATIC deficiency,608688
ATP1A2209.611Alternating hemiplegia of childhood,104290
ATP1A2209.611Migraine, familial basilar,602481
ATP1A2209.611Migraine, familial hemiplegic, 2602481
ATP2A2197.210.99Acrokeratosis verruciformis,101900
ATP2A2197.210.99Darier disease,124200
ATP6AP255.40.830.63?Parkinsonism with spasticity, X-linked,300911
ATP6AP255.40.830.63?Mental retardation, X-linked, syndromic, Hedera type,300423
ATP6V0A2159.810.99Cutis laxa, autosomal recessive, type IIA,219200
ATP6V0A2159.810.99Wrinkly skin syndrome,278250
ATP7A157.30.990.97Menkes disease,309400
ATP7A157.30.990.97Occipital horn syndrome,304150
ATP7A157.30.990.97Spinal muscular atrophy, distal, X-linked 3300489
ATP8A2149.710.99?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268
ATPAF2114.310.99Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1604273
ATR160.30.980.96Seckel syndrome 1210600
ATR160.30.980.96?Cutaneous telangiectasia and cancer syndrome, familial,614564
ATRX94.50.970.93Alpha-thalassemia myelodysplasia syndrome, somatic,300448
ATRX94.50.970.93Alpha-thalassemia/mental retardation syndrome,301040
ATRX94.50.970.93Mental retardation-hypotonic facies syndrome, X-linked,309580
AUH89.30.980.923-methylglutaconic aciduria, type I,250950
AUTS2115.20.960.95Mental retardation, autosomal dominant 26,615834
B3GALNT2134.90.920.9Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11615181
B3GALTL113.50.960.92Peters-plus syndrome,261540
B3GNT112611Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13615287
B4GALT1132.40.990.99Congenital disorder of glycosylation, type IId,607091
B4GALT7116.30.960.95Ehlers-Danlos syndrome with short stature and limb anomalies,130070
BBS1162.311Bardet-Biedl syndrome 1209900
BBS10179.110.99Bardet-Biedl syndrome 10615987
BBS1222511Bardet-Biedl syndrome 12615989
BBS2210.110.99Bardet-Biedl syndrome 2615981
BBS2210.110.99Retinitis pigmentosa 74616562
BBS4163.90.990.97Bardet-Biedl syndrome 4615982
BBS5122.10.950.89Bardet-Biedl syndrome 5615983
BBS7135.50.970.92Bardet-Biedl syndrome 7615984
BBS9124.10.960.93Bardet-Biedl syndrome 9615986
BCAP3174.10.930.81Deafness, dystonia, and cerebral hypomyelination,300475
BCKDHA186.90.990.99Maple syrup urine disease, type Ia,248600
BCKDHB124.40.890.81Maple syrup urine disease, type Ib,248600
BCL11A148.50.990.97Intellectual development disorder with persistence of fetal hemoglobin,617101
BCOR131.40.990.97Microphthalmia, syndromic 2300166
BCS1L184.411Bjornstad syndrome,262000
BCS1L184.411GRACILE syndrome,603358
BCS1L184.411Leigh syndrome,256000
BCS1L184.411Mitochondrial complex III deficiency, nuclear type 1124000
BLM139.60.980.95Bloom syndrome,210900
BRAF770.890.79Adenocarcinoma of lung, somatic,211980
BRAF770.890.79Cardiofaciocutaneous syndrome,115150
BRAF770.890.79Colorectal cancer, somatic115150
BRAF770.890.79LEOPARD syndrome 3613707
BRAF770.890.79Melanoma, malignant, somatic613707
BRAF770.890.79Nonsmall cell lung cancer, somatic613707
BRAF770.890.79Noonan syndrome 7613706
BRAT1112.90.990.96Rigidity and multifocal seizure syndrome, lethal neonatal,614498
BRF1106.50.970.93Cerebellofaciodental syndrome,616202
BRWD3120.60.970.93Mental retardation, X-linked 93300659
BSCL2126.410.99Encephalopathy, progressive, with or without lipodystrophy,615924
BSCL2126.410.99Lipodystrophy, congenital generalized, type 2269700
BSCL2126.410.99Neuropathy, distal hereditary motor, type VA,600794
BSCL2126.410.99Silver spastic paraplegia syndrome,270685
BTD163.810.99Biotinidase deficiency,253260
BUB1B164.80.980.97Colorectal cancer, somatic,114500
BUB1B164.80.980.97Mosaic variegated aneuploidy syndrome 1257300
BUB1B164.80.980.97[Premature chromatid separation trait],176430
C10orf2193.611Mitochondrial DNA depletion syndrome 7 (hepatocerebral type),271245
C10orf2193.611Perrault syndrome 5616138
C10orf2193.611Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3609286
C12orf57148.211Temtamy syndrome,218340
C12orf6591.30.970.92Combined oxidative phosphorylation deficiency 7613559
C12orf6591.30.970.92Spastic paraplegia 55 autosomal recessive,615035
C2CD3163.20.950.95?Orofaciodigital syndrome XIV,615948
C5orf42136.50.980.94Joubert syndrome 17614615
C5orf42136.50.980.94Orofaciodigital syndrome VI,277170
CA2166.30.980.93Osteopetrosis, autosomal recessive 3 with renal tubular acidosis,259730
CA5A124.80.990.95Hyperammonemia due to carbonic anhydrase VA deficiency,615751
CA8120.50.950.9Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3613227
CACNG2156.811Mental retardation, autosomal dominant 10614256
CAMTA1193.20.990.99Cerebellar ataxia, nonprogressive, with mental retardation,614756
CASC5122.30.970.94Microcephaly 4 primary, autosomal recessive,604321
CASK116.50.980.94FG syndrome 4300422
CASK116.50.980.94Mental retardation and microcephaly with pontine and cerebellar hypoplasia,300749
CASK116.50.980.94Mental retardation, with or without nystagmus,300422
CBL145.20.990.98Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia,613563
CBL145.20.990.98?Juvenile myelomonocytic leukemia,607785
CBS127.10.970.92Homocystinuria, B6-responsive and nonresponsive types,236200
CBS127.10.970.92Thrombosis, hyperhomocysteinemic,236200
CC2D1A132.50.990.98Mental retardation, autosomal recessive 3608443
CC2D2A137.50.980.96COACH syndrome,216360
CC2D2A137.50.980.96Joubert syndrome 9612285
CC2D2A137.50.980.96Meckel syndrome 6612284
CCBE181.90.980.92Hennekam lymphangiectasia-lymphedema syndrome 1235510
CCDC174126.70.960.92Hypotonia, infantile, with psychomotor retardation,616816
CCDC22108.10.970.91Ritscher-Schinzel syndrome 2300963
CCDC78118.410.99Myopathy, centronuclear, 4614807
CCND2168.110.99Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938
CDH15132.30.990.95Mental retardation, autosomal dominant 3612580
CDK5RAP2146.60.990.98Microcephaly 3 primary, autosomal recessive,604804
CDKL5140.70.980.96Epileptic encephalopathy, early infantile, 2300672
CDKN1C350.750.6Beckwith-Wiedemann syndrome,130650
CDKN1C350.750.6IMAGE syndrome,614732
CDON156.10.990.99Holoprosencephaly 11614226
CENPJ163.10.990.97?Seckel syndrome 4613676
CENPJ163.10.990.97Microcephaly 6 primary, autosomal recessive,608393
CEP13587.70.960.87?Microcephaly 8 primary, autosomal recessive,614673
CEP152195.60.970.94Microcephaly 9 primary, autosomal recessive,614852
CEP152195.60.970.94Seckel syndrome 5613823
CEP29077.40.880.77Joubert syndrome 5610188
CEP29077.40.880.77Leber congenital amaurosis 10611755
CEP29077.40.880.77Meckel syndrome 4611134
CEP29077.40.880.77Senior-Loken syndrome 6610189
CEP29077.40.880.77?Bardet-Biedl syndrome 14615991
CEP4196.70.970.9Joubert syndrome 15614464
CHAMP1184.711Mental retardation, autosomal dominant 40616579
CHD2148.50.990.98Epileptic encephalopathy, childhood-onset,615369
CHD3118.70.970.93No OMIM phenotype615369
CHD3118.70.970.93?Autism (O'Roak -2012 Nature 485,246)615369
CHD4150.910.99No OMIM phenotype615369
CHD4150.910.99?Epileptic encephalopathy (Li -2016 Mol Psychiatry 21 290)615369
CHD4150.910.99{Cancer, increased risk, association with} (Yamada -2015 Genes Chromosomes Cancer 54 122)615369
CHD71610.990.98CHARGE syndrome,214800
CHD71610.990.98Hypogonadotropic hypogonadism 5 with or without anosmia,612370
CHD8172.310.99{Autism, susceptibility to, 18},615032
CHKB101.20.990.96Muscular dystrophy, congenital, megaconial type,602541
CKAP2L195.20.980.95Filippi syndrome,272440
CLCN4133.410.99Mental retardation, X-linked 49/15,300114
CLCNKB106.80.980.92Bartter syndrome, type 3607364
CLCNKB106.80.980.92Bartter syndrome, type 4b, digenic,613090
CLIC2930.980.95?Mental retardation, X-linked, syndromic 32300886
CLN3125.90.980.94Ceroid lipofuscinosis, neuronal, 3204200
CLN5163.10.980.93Ceroid lipofuscinosis, neuronal, 5256731
CLN6142.30.980.94Ceroid lipofuscinosis, neuronal, 6601780
CLN6142.30.980.94Ceroid lipofuscinosis, neuronal, Kufs type, adult onset,204300
CLN8252.411Ceroid lipofuscinosis, neuronal, 8600143
CLN8252.411Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant,610003
CLPB152.70.960.953-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia,616271
CNNM2213.20.990.99Hypomagnesemia 6 renal,613882
CNNM2213.20.990.99Hypomagnesemia, seizures, and mental retardation,616418
CNTNAP2156.810.99Cortical dysplasia-focal epilepsy syndrome,610042
CNTNAP2156.810.99Pitt-Hopkins like syndrome 1610042
CNTNAP2156.810.99{Autism susceptibility 15},612100
COASY16811Neurodegeneration with brain iron accumulation 6615643
COG11360.990.99Congenital disorder of glycosylation, type IIg,611209
COG413910.99Congenital disorder of glycosylation, type IIj,613489
COG5117.80.970.93Congenital disorder of glycosylation, type IIi,613612
COG692.40.930.85Congenital disorder of glycosylation, type IIl,614576
COG692.40.930.85Shaheen syndrome,615328
COG7138.911Congenital disorder of glycosylation, type IIe,608779
COG8124.60.990.96Congenital disorder of glycosylation, type IIh,611182
COL4A1101.80.980.93Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps,611773
COL4A1101.80.980.93Brain small vessel disease with or without ocular anomalies,607595
COL4A1101.80.980.93Porencephaly 1175780
COL4A1101.80.980.93?Retinal arteries, tortuosity of,180000
COL4A1101.80.980.93{Hemorrhage, intracerebral, susceptibility to},614519
COL4A21030.980.94Porencephaly 2614483
COL4A21030.980.94{Hemorrhage, intracerebral, susceptibility to},614519
COL4A3BP140.60.990.96Mental retardation, autosomal dominant 34616351
COLEC11220.9113MC syndrome 2265050
COQ284.50.950.92Coenzyme Q10 deficiency, primary, 1607426
COQ284.50.950.92{Multiple system atrophy, susceptibility to},146500
COQ4940.860.82Coenzyme Q10 deficiency, primary, 7616276
COQ9105.70.990.98Coenzyme Q10 deficiency, primary, 5614654
COX10240.210.99Leigh syndrome due to mitochondrial COX4 deficiency,256000
COX10240.210.99Mitochondrial complex IV deficiency,220110
COX15105.910.99Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119
COX15105.910.99Leigh syndrome due to cytochrome c oxidase deficiency,256000
COX6B1174.511Mitochondrial complex IV deficiency,220110
CPS1169.310.99Carbamoylphosphate synthetase I deficiency,237300
CPS1169.310.99{Pulmonary hypertension, neonatal, susceptibility to},615371
CPS1169.310.99{Venoocclusive disease after bone marrow transplantation}615371
CRADD126.40.990.97Mental retardation, autosomal recessive 34614499
CRBN157.50.990.94Mental retardation, autosomal recessive 2607417
CREBBP147.60.990.96Rubinstein-Taybi syndrome,180849
CSNK2A11380.940.88Okur-Chung neurodevelopmental syndrome,617062
CSNK2A11380.940.88Glaucoma, primary congenital (Lee -2011 Mol Vis 17,3583)617062
CSPP1119.40.990.96Joubert syndrome 21615636
CTCF173.20.990.97Mental retardation, autosomal dominant 21615502
CTDP11120.910.84Congenital cataracts, facial dysmorphism, and neuropathy,604168
CTNNB118911Colorectal cancer, somatic,114500
CTNNB118911Hepatocellular carcinoma, somatic,114550
CTNNB118911Mental retardation, autosomal dominant 19615075
CTNNB118911Ovarian cancer, somatic,167000
CTNNB118911Pilomatricoma, somatic,132600
CTSA149.80.990.99Galactosialidosis,256540
CTSD183.60.990.98Ceroid lipofuscinosis, neuronal, 10610127
CUBN141.90.990.98Megaloblastic anemia-1, Finnish type,261100
CUL4B83.80.960.9Mental retardation, X-linked, syndromic 15 (Cabezas type),300354
CYB5R3184.90.980.98Methemoglobinemia, type I,250800
CYB5R3184.90.980.98Methemoglobinemia, type II,250800
D2HGDH147.90.970.95D-2-hydroxyglutaric aciduria,600721
DAG1221.211Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9616538
DAG1221.211Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9613818
DARS2137.80.990.99Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation,611105
DBT122.50.970.92Maple syrup urine disease, type II,248600
DCAF17110.10.980.92Woodhouse-Sakati syndrome,241080
DCHS11670.990.98Mitral valve prolapse 2607829
DCHS11670.990.98Van Maldergem syndrome 1601390
DCPS159.910.99Al-Raqad syndrome,616459
DCX137.910.99Lissencephaly, X-linked,300067
DCX137.910.99Subcortical laminal heteropia, X-linked,300067
DDC118.60.990.96Aromatic L-amino acid decarboxylase deficiency,608643
DDHD2184.80.990.96Spastic paraplegia 54 autosomal recessive,615033
DDX1199.20.80.73Warsaw breakage syndrome,613398
DDX3X112.20.980.95Mental retardation, X-linked 102300958
DEAF1149.50.90.85Mental retardation, autosomal dominant 24615828
DHCR2420310.99Desmosterolosis,602398
DHCR7176.811Smith-Lemli-Opitz syndrome,270400
DHFR550.90.73Megaloblastic anemia due to dihydrofolate reductase deficiency,613839
DHTKD1162.90.990.972-aminoadipic 2-oxoadipic aciduria,204750
DHTKD1162.90.990.97?Charcot-Marie-Tooth disease, axonal, type 2Q,615025
DIAPH1134.80.990.97Deafness, autosomal dominant 1124900
DIAPH1134.80.990.97Seizures, cortical blindness, microcephaly syndrome,616632
DIP2B188.70.990.98Mental retardation, FRA12A type,136630
DKC1138.10.990.98Dyskeratosis congenita, X-linked,305000
DLD1420.990.97Dihydrolipoamide dehydrogenase deficiency,246900
DLG31130.990.95Mental retardation, X-linked 90300850
DMD147.30.990.97Becker muscular dystrophy,300376
DMD147.30.990.97Cardiomyopathy, dilated, 3B,302045
DMD147.30.990.97Duchenne muscular dystrophy,310200
DMPK127.20.990.97Myotonic dystrophy 1160900
DNAJC19105.30.970.93-methylglutaconic aciduria, type V,610198
DNM1171.50.940.91Epileptic encephalopathy, early infantile, 31616346
DNMT3A1260.980.95Tatton-Brown-Rahman syndrome,615879
DNMT3B14110.99Immunodeficiency-centromeric instability-facial anomalies syndrome 1242860
DOCK6133.60.990.97Adams-Oliver syndrome 2614219
DOCK7128.80.970.94Epileptic encephalopathy, early infantile, 23615859
DPAGT1134.511Congenital disorder of glycosylation, type Ij,608093
DPAGT1134.511Myasthenic syndrome, congenital, 13 with tubular aggregates,614750
DPH1179.70.990.99Developmental delay with short stature,dysmorphic features and sparse hair,616901
DPM1136.90.890.84Congenital disorder of glycosylation, type Ie,608799
DPP6157.80.980.95Mental retardation, autosomal dominant 33616311
DPP6157.80.980.95{Ventricular fibrillation, paroxysmal familial, 2},612956
DPYD177.90.950.945-fluorouracil toxicity,274270
DPYD177.90.950.94Dihydropyrimidine dehydrogenase deficiency,274270
DST179.40.990.98Epidermolysis bullosa simplex, autosomal recessive 2615425
DST179.40.990.98?Neuropathy, hereditary sensory and autonomic, type VI,614653
DYM118.20.960.94Dyggve-Melchior-Clausen disease,223800
DYM118.20.960.94Smith-McCort dysplasia,607326
DYNC1H1196.810.99Charcot-Marie-Tooth disease, axonal, type 20614228
DYNC1H1196.810.99Mental retardation, autosomal dominant 13614563
DYNC1H1196.810.99Spinal muscular atrophy, lower extremity-predominant 1 AD,158600
DYRK1A176.510.99Mental retardation, autosomal dominant 7614104
EBP101.30.990.96Chondrodysplasia punctata, X-linked dominant,302960
EBP101.30.990.96MEND syndrome,300960
EDC3153.410.99?Mental retardation, autosomal recessive 50616460
EEF1A2208.60.990.98Epileptic encephalopathy, early infantile, 33616409
EEF1A2208.60.990.98Mental retardation, autosomal dominant 38616393
EFTUD2125.40.990.99Mandibulofacial dysostosis, Guion-Almeida type,610536
EHMT1161.20.980.96Kleefstra syndrome,610253
EIF2AK3169.70.960.91Wolcott-Rallison syndrome,226980
EIF4A3122.110.99Robin sequence with cleft mandible and limb abnormalities,268305
EIF4G1144.40.990.99{Parkinson disease 18},614251
ELOVL4104.80.990.97Ichthyosis, spastic quadriplegia, and mental retardation,614457
ELOVL4104.80.990.97Stargardt disease 3600110
ELOVL4104.80.990.97?Spinocerebellar ataxia 34133190
EMC1134.610.99Cerebellar atrophy, visual impairment, and psychomotor retardation,616875
EMX2121.810.99Schizencephaly,269160
EP300205.70.990.98Colorectal cancer, somatic,114500
EP300205.70.990.98Rubinstein-Taybi syndrome 2613684
EPB41L1139.710.99?Mental retardation, autosomal dominant 11614257
ERCC2143.510.99Cerebrooculofacioskeletal syndrome 2610756
ERCC2143.510.99Trichothiodystrophy 1 photosensitive,601675
ERCC2143.510.99Xeroderma pigmentosum, group D,278730
ERCC3117.60.990.98Trichothiodystrophy 2 photosensitive,616390
ERCC3117.60.990.98Xeroderma pigmentosum, group B,610651
ERCC5161.60.990.99Cerebrooculofacioskeletal syndrome 3616570
ERCC5161.60.990.99Xeroderma pigmentosum, group G,278780
ERCC5161.60.990.99Xeroderma pigmentosum, group G/Cockayne syndrome,278780
ERCC6192.310.99Cerebrooculofacioskeletal syndrome 1214150
ERCC6192.310.99Cockayne syndrome, type B,133540
ERCC6192.310.99De Sanctis-Cacchione syndrome,278800
ERCC6192.310.99Premature ovarian failure 11,616946
ERCC6192.310.99UV-sensitive syndrome 1600630
ERCC6192.310.99{Lung cancer, susceptibility to},211980
ERCC6192.310.99{Macular degeneration, age-related, susceptibility to 5},613761
ERCC895.10.930.81Cockayne syndrome, type A,216400
ERCC895.10.930.81UV-sensitive syndrome 2614621
ERLIN2167.70.990.99Spastic paraplegia 18 autosomal recessive,611225
ESCO2121.10.950.9Roberts syndrome,268300
ESCO2121.10.950.9SC phocomelia syndrome,269000
ETFB128.111Glutaric acidemia IIB,231680
ETHE186.40.990.94Ethylmalonic encephalopathy,602473
EXOSC381.70.950.88Pontocerebellar hypoplasia, type 1B,614678
EZH2153.30.990.98Weaver syndrome,277590
FAM126A144.40.970.94Leukodystrophy, hypomyelinating, 5610532
FAR191.80.960.91Peroxisomal fatty acyl-CoA reductase 1 disorder,616154
FAT4245.810.99Hennekam lymphangiectasia-lymphedema syndrome 2616006
FAT4245.810.99Van Maldergem syndrome 2615546
FBN1185.20.990.99Acromicric dysplasia,102370
FBN1185.20.990.99Aortic aneurysm, ascending, and dissection102370
FBN1185.20.990.99Ectopia lentis, familial,129600
FBN1185.20.990.99Geleophysic dysplasia 2614185
FBN1185.20.990.99Marfan lipodystrophy syndrome,616914
FBN1185.20.990.99Marfan syndrome,154700
FBN1185.20.990.99MASS syndrome,604308
FBN1185.20.990.99Stiff skin syndrome,184900
FBN1185.20.990.99Weill-Marchesani syndrome 2 dominant,608328
FBXL4227.111Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type),615471
FBXO31111.70.950.89?Mental retardation, autosomal recessive 45615979
FGD198.10.950.89Aarskog-Scott syndrome,305400
FGD198.10.950.89Mental retardation, X-linked syndromic 16305400
FGFR1161.50.990.97Encephalocraniocutaneous lipomatosis,613001
FGFR1161.50.990.97Hartsfield syndrome,615465
FGFR1161.50.990.97Hypogonadotropic hypogonadism 2 with or without anosmia,147950
FGFR1161.50.990.97Jackson-Weiss syndrome,123150
FGFR1161.50.990.97Osteoglophonic dysplasia,166250
FGFR1161.50.990.97Pfeiffer syndrome,101600
FGFR1161.50.990.97Trigonocephaly 1190440
FGFR2156.40.960.95Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,207410
FGFR2156.40.960.95Apert syndrome,101200
FGFR2156.40.960.95Beare-Stevenson cutis gyrata syndrome,123790
FGFR2156.40.960.95Bent bone dysplasia syndrome,614592
FGFR2156.40.960.95Craniofacial-skeletal-dermatologic dysplasia,101600
FGFR2156.40.960.95Craniosynostosis, nonspecific101600
FGFR2156.40.960.95Crouzon syndrome,123500
FGFR2156.40.960.95Gastric cancer, somatic,613659
FGFR2156.40.960.95Jackson-Weiss syndrome,123150
FGFR2156.40.960.95LADD syndrome,149730
FGFR2156.40.960.95Pfeiffer syndrome,101600
FGFR2156.40.960.95Saethre-Chotzen syndrome,101400
FGFR2156.40.960.95Scaphocephaly and Axenfeld-Rieger anomaly101400
FGFR2156.40.960.95Scaphocephaly, maxillary retrusion, and mental retardation,609579
FGFR3120.20.990.99Achondroplasia,100800
FGFR3120.20.990.99Bladder cancer, somatic,109800
FGFR3120.20.990.99CATSHL syndrome,610474
FGFR3120.20.990.99Cervical cancer, somatic,603956
FGFR3120.20.990.99Colorectal cancer, somatic,114500
FGFR3120.20.990.99Crouzon syndrome with acanthosis nigricans,612247
FGFR3120.20.990.99Hypochondroplasia,146000
FGFR3120.20.990.99LADD syndrome,149730
FGFR3120.20.990.99Muenke syndrome,602849
FGFR3120.20.990.99Nevus, epidermal, somatic,162900
FGFR3120.20.990.99SADDAN,616482
FGFR3120.20.990.99Spermatocytic seminoma, somatic,273300
FGFR3120.20.990.99Thanatophoric dysplasia, type I,187600
FGFR3120.20.990.99Thanatophoric dysplasia, type II,187601
FH175.40.920.88Fumarase deficiency,606812
FH175.40.920.88Leiomyomatosis and renal cell cancer,150800
FKRP930.990.98Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5613153
FKRP930.990.98Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5613153
FKRP930.990.98Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5606612
FKRP930.990.98Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5607155
FKTN157.40.980.93Cardiomyopathy, dilated, 1X,611615
FKTN157.40.980.93Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4253800
FKTN157.40.980.93Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4613152
FKTN157.40.980.93Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4611588
FLNA161.10.990.99Cardiac valvular dysplasia, X-linked,314400
FLNA161.10.990.99Congenital short bowel syndrome,300048
FLNA161.10.990.99FG syndrome 2300321
FLNA161.10.990.99Frontometaphyseal dysplasia,305620
FLNA161.10.990.99Heterotopia, periventricular,300049
FLNA161.10.990.99Heterotopia, periventricular, ED variant,300537
FLNA161.10.990.99Intestinal pseudoobstruction, neuronal,300048
FLNA161.10.990.99Melnick-Needles syndrome,309350
FLNA161.10.990.99Otopalatodigital syndrome, type I,311300
FLNA161.10.990.99Otopalatodigital syndrome, type II,304120
FLNA161.10.990.99Terminal osseous dysplasia,300244
FLVCR1149.30.990.96Ataxia, posterior column, with retinitis pigmentosa,609033
FMN297.20.840.78Mental retardation, autosomal recessive 47616193
FMR193.90.950.85Fragile X syndrome,300624
FMR193.90.950.85Fragile X tremor/ataxia syndrome,300623
FMR193.90.950.85Premature ovarian failure 1311360
FOXG1130.80.890.82Rett syndrome, congenital variant,613454
FOXP1148.510.99Mental retardation with language impairment and with or without autistic features,613670
FOXP2174.10.980.95Speech-language disorder-1,602081
FRAS116510.99Fraser syndrome,219000
FREM2199.10.990.99Fraser syndrome,219000
FRRS1L1430.690.63Epileptic encephalopathy, early infantile, 37616981
FTCD99.60.940.88Glutamate formiminotransferase deficiency,229100
FTO158.30.990.99Growth retardation, developmental delay, facial dysmorphism,612938
FTO158.30.990.99{Obesity, susceptibility to, BMIQ14},612460
FTSJ1140.60.990.96Mental retardation, X-linked 9309549
FUCA1156.20.990.99Fucosidosis,230000
GABRA1199.911Epileptic encephalopathy, early infantile, 19615744
GABRA1199.911{Epilepsy, childhood absence, susceptibility to, 4},611136
GABRA1199.911{Epilepsy, juvenile myoclonic, susceptibility to, 5},611136
GAD1132.50.990.97?Cerebral palsy, spastic quadriplegic, 1603513
GALE168.611Galactose epimerase deficiency,230350
GALT16811Galactosemia,230400
GAMT119.10.970.91Cerebral creatine deficiency syndrome 2612736
GATAD2B144.710.99Mental retardation, autosomal dominant 18615074
GATM174.810.99Cerebral creatine deficiency syndrome 3612718
GCH191.20.950.86Dystonia, DOPA-responsive, with or without hyperphenylalaninemia,128230
GCH191.20.950.86Hyperphenylalaninemia, BH4-deficient, B,233910
GCSH38.80.830.62Glycine encephalopathy,605899
GDI1177.311Mental retardation, X-linked 41300849
GFAP110.30.990.98Alexander disease,203450
GJB1237.610.99Charcot-Marie-Tooth neuropathy, X-linked dominant, 1302800
GJC252.20.850.68Leukodystrophy, hypomyelinating, 2608804
GJC252.20.850.68Lymphedema, hereditary, IC,613480
GJC252.20.850.68Spastic paraplegia 44 autosomal recessive,613206
GK51.70.770.62Glycerol kinase deficiency,307030
GLB193.90.990.95GM1-gangliosidosis, type I,230500
GLB193.90.990.95GM1-gangliosidosis, type II,230600
GLB193.90.990.95GM1-gangliosidosis, type III,230650
GLB193.90.990.95Mucopolysaccharidosis type IVB (Morquio),253010
GLDC90.10.910.84Glycine encephalopathy,605899
GLI2139.50.980.96Culler-Jones syndrome,615849
GLI2139.50.980.96Holoprosencephaly-9,610829
GLI3170.910.99Greig cephalopolysyndactyly syndrome,175700
GLI3170.910.99Pallister-Hall syndrome,146510
GLI3170.910.99Polydactyly, postaxial, types A1 and B,174200
GLI3170.910.99Polydactyly, preaxial, type IV,174700
GLI3170.910.99{Hypothalamic hamartomas, somatic},241800
GLYCTK2390.990.99D-glyceric aciduria,220120
GM2A143.610.99GM2-gangliosidosis, AB variant,272750
GMPPA148.311Alacrima, achalasia, and mental retardation syndrome,615510
GMPPB256.111Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14615350
GMPPB256.111Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14615351
GMPPB256.111Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14615352
GNAO1204.811Epileptic encephalopathy, early infantile, 17615473
GNAS140.10.980.96Acromegaly, somatic,102200
GNAS140.10.980.96ACTH-independent macronodular adrenal hyperplasia,219080
GNAS140.10.980.96McCune-Albright syndrome, somatic, mosaic174800
GNAS140.10.980.96Osseous heteroplasia, progressive,166350
GNAS140.10.980.96Pseudohypoparathyroidism Ia,103580
GNAS140.10.980.96Pseudohypoparathyroidism Ib,603233
GNAS140.10.980.96Pseudohypoparathyroidism Ic,612462
GNAS140.10.980.96Pseudopseudohypoparathyroidism,612463
GNB1212.511Leukemia,acute lymphoblastic,somatic,613065
GNB1212.511Mental retardation, autosomal dominant 42616973
GNPAT159.60.980.95Rhizomelic chondrodysplasia punctata, type 2222765
GNPTAB1920.980.97Mucolipidosis II alpha/beta,252500
GNPTAB1920.980.97Mucolipidosis III alpha/beta,252600
GNS1230.960.91Mucopolysaccharidosis type IIID,252940
GPC31210.980.94Simpson-Golabi-Behmel syndrome, type 1312870
GPC31210.980.94Wilms tumor, somatic,194070
GPHN192.10.980.97Molybdenum cofactor deficiency C,615501
GPR56173.811Polymicrogyria, bilateral frontoparietal,606854
GPR56173.811Polymicrogyria, bilateral perisylvian,615752
GPT2158.40.980.93?Mental retardation, autosomal recessive 49616281
GRIA3112.80.990.95Mental retardation, X-linked 94300699
GRID2195.310.99Spinocerebellar ataxia, autosomal recessive 18616204
GRIK2153.90.950.93Mental retardation, autosomal recessive, 6611092
GRIN1166.910.99Mental retardation, autosomal dominant 8614254
GRIN2A176.511Epilepsy, focal, with speech disorder and with or without mental retardation,245570
GRIN2B213.20.990.99Epileptic encephalopathy, early infantile, 27616139
GRIN2B213.20.990.99Mental retardation, autosomal dominant 6613970
GRIP1152.30.990.99Fraser syndrome,219000
GRM1194.510.99Spinocerebellar ataxia, autosomal recessive 13614831
GSS113.110.99Glutathione synthetase deficiency,266130
GSS113.110.99Hemolytic anemia due to glutathione synthetase deficiency,231900
GTF2H5149.410.99Trichothiodystrophy 3 photosensitive,616395
GTPBP3135.80.990.98Combined oxidative phosphorylation deficiency 23616198
GUSB125.10.90.87Mucopolysaccharidosis VII,253220
HACE1149.90.980.94Spastic paraplegia and psychomotor retardation with or without seizures,616756
HAX114811Neutropenia, severe congenital 3 autosomal recessive,610738
HCCS123.610.98Linear skin defects with multiple congenital anomalies 1309801
HCFC1121.50.990.97Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ),309541
HCN1142.60.990.98Epileptic encephalopathy, early infantile, 24615871
HDAC4119.70.990.99No OMIM phenotype615871
HDAC61270.990.97?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia,615871
HDAC61270.990.97?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia,300863
HDAC8165.110.99Cornelia de Lange syndrome 5300882
HEPACAM156.70.860.78Megalencephalic leukoencephalopathy with subcortical cysts 2A,613925
HEPACAM156.70.860.78Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental613925
HEPACAM156.70.860.78retardation,613926
HERC11990.990.99Macrocephaly, dysmorphic facies, and psychomotor retardation,617011
HERC2117.30.790.75Mental retardation, autosomal recessive 38615516
HERC2117.30.790.75[Skin/hair/eye pigmentation 1 blond/brown hair],227220
HERC2117.30.790.75[Skin/hair/eye pigmentation 1 blue/nonblue eyes],227220
HESX178.10.960.87Growth hormone deficiency with pituitary anomalies,182230
HESX178.10.960.87Pituitary hormone deficiency, combined, 5182230
HESX178.10.960.87Septooptic dysplasia,182230
HEXA143.710.99GM2-gangliosidosis, several forms,272800
HEXA143.710.99Tay-Sachs disease,272800
HEXA143.710.99[Hex A pseudodeficiency],272800
HEXB152.60.970.91Sandhoff disease, infantile, juvenile, and adult forms,268800
HIVEP2210.111Mental retardation, autosomal dominant 43616977
HLCS193.111Holocarboxylase synthetase deficiency,253270
HNMT151.60.990.98Mental retardation, autosomal recessive 51616739
HNMT151.60.990.98{Asthma, susceptibility to},600807
HOXA1173.611Athabaskan brainstem dysgenesis syndrome,601536
HOXA1173.611Bosley-Salih-Alorainy syndrome,601536
HPD151.210.99Hawkinsinuria,140350
HPD151.210.99Tyrosinemia, type III,276710
HPRT175.30.940.84HPRT-related gout,300323
HPRT175.30.940.84Lesch-Nyhan syndrome,300322
HRAS195.30.990.99Congenital myopathy with excess of muscle spindles,218040
HRAS195.30.990.99Costello syndrome,218040
HRAS195.30.990.99Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic,163200
HRAS195.30.990.99{Bladder cancer, somatic},109800
HRAS195.30.990.99{Nevus sebaceous or woolly hair nevus, somatic},162900
HRAS195.30.990.99{Spitz nevus or nevus spilus, somatic},137550
HRAS195.30.990.99{Thyroid carcinoma, follicular, somatic},188470
HSD17B10120.310.9817-beta-hydroxysteroid dehydrogenase X deficiency,300438
HSD17B10120.310.98?Mental retardation, X-linked syndromic 10300220
HSPD192.70.960.89Leukodystrophy, hypomyelinating, 4612233
HSPD192.70.960.89Spastic paraplegia 13 autosomal dominant,605280
HUWE1116.80.990.97Mental retardation, X-linked syndromic, Turner type,300706
IARS171.30.990.98No OMIM phenotype300706
IDS119.10.990.98Mucopolysaccharidosis II,309900
IDUA116.90.910.85Mucopolysaccharidosis Ih,607014
IDUA116.90.910.85Mucopolysaccharidosis Ih/s,607015
IDUA116.90.910.85Mucopolysaccharidosis Is,607016
IER3IP160.90.860.78Microcephaly, epilepsy, and diabetes syndrome,614231
IFIH11300.980.96Aicardi-Goutieres syndrome 7615846
IFIH11300.980.96Singleton-Merten syndrome 1182250
IFT172128.20.990.99Retinitis pigmentosa 71616394
IFT172128.20.990.99Short-rib thoracic dysplasia 10 with or without polydactyly,615630
IGBP1122.30.990.96Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia,300472
IGF1146.810.99Growth retardation with deafness and mental retardation due to IGF1 deficiency,608747
IKBKG56.20.840.7Ectodermal dysplasia, hypohidrotic, with immune deficiency,300291
IKBKG56.20.840.7Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency,300301
IKBKG56.20.840.7Immunodeficiency 33300636
IKBKG56.20.840.7Immunodeficiency, isolated,300584
IKBKG56.20.840.7Incontinentia pigmenti,308300
IKBKG56.20.840.7Invasive pneumococcal disease, recurrent isolated, 2300640
IL1RAPL1143.80.990.97Mental retardation, X-linked 21/34,300143
INPP5E105.10.960.91Joubert syndrome 1213300
INPP5E105.10.960.91Mental retardation, truncal obesity, retinal dystrophy, and micropenis,610156
IQSEC272.20.940.86Mental retardation, X-linked 1/78,309530
ISPD1200.950.85Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7614643
ISPD1200.950.85Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7616052
ITPR1176.710.99Gillespie syndrome,206700
ITPR1176.710.99Spinocerebellar ataxia 15606658
ITPR1176.710.99Spinocerebellar ataxia 29 congenital nonprogressive,117360
IVD1260.990.99Isovaleric acidemia,243500
JAG11670.990.98Alagille syndrome,118450
JAG11670.990.98Tetralogy of Fallot,187500
JAG11670.990.98?Deafness, congenital heart defects, and posterior embryotoxon187500
JAM3166.60.990.98Hemorrhagic destruction of the brain, subependymal calcification, and cataracts,613730
KANK1179.611Cerebral palsy, spastic quadriplegic, 2612900
KANSL194.70.940.89Koolen-De Vries syndrome,610443
KAT6A199.310.99Mental retardation, autosomal dominant 32616268
KAT6B202.70.990.98Genitopatellar syndrome,606170
KAT6B202.70.990.98SBBYSS syndrome,603736
KATNB1156.411Lissencephaly 6 with microcephaly,616212
KCNA2180.711Epileptic encephalopathy, early infantile, 32616366
KCNB1149.410.99Epileptic encephalopathy, early infantile, 26616056
KCNC3155.30.710.58Spinocerebellar ataxia 13605259
KCNH1198.910.99Temple-Baraitser syndrome,611816
KCNH1198.910.99Zimmermann-Laband syndrome 1135500
KCNJ1022910.99Enlarged vestibular aqueduct, digenic,600791
KCNJ1022910.99SESAME syndrome,612780
KCNJ11302.711Diabetes mellitus, permanent neonatal, with neurologic features,606176
KCNJ11302.711Diabetes mellitus, transient neonatal, 3610582
KCNJ11302.711Diabetes, permanent neonatal,606176
KCNJ11302.711Hyperinsulinemic hypoglycemia, familial, 2601820
KCNJ11302.711Maturity-onset diabetes of the young, type 13616329
KCNJ11302.711{Diabetes mellitus, type 2 susceptibility to},125853
KCNJ6196.910.99Keppen-Lubinsky syndrome,614098
KCNK9195.611Birk-Barel mental retardation dysmorphism syndrome,612292
KCNQ2103.90.980.96Epileptic encephalopathy, early infantile, 7613720
KCNQ2103.90.980.96Myokymia,121200
KCNQ2103.90.980.96Seizures, benign neonatal, 1121200
KCNT1129.20.950.93Epilepsy, nocturnal frontal lobe, 5615005
KCNT1129.20.950.93Epileptic encephalopathy, early infantile, 14614959
KCTD7144.90.930.92Epilepsy, progressive myoclonic 3 with or without intracellular inclusions,611726
KDM1A154.50.980.96Cleft palate, psychomotor retardation, and distinctive facial features,616728
KDM5C128.30.980.95Mental retardation, X-linked, syndromic, Claes-Jensen type,300534
KDM6A127.50.930.86Kabuki syndrome 2300867
KIAA0226116.40.980.97?Spinocerebellar ataxia, autosomal recessive 15615705
KIAA1033105.10.930.88?Mental retardation, autosomal recessive 43615817
KIAA1279198.710.99Goldberg-Shprintzen megacolon syndrome,609460
KIAA202218310.99Mental retardation, X-linked 98300912
KIF1191.90.960.93Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation,152950
KIF1A134.80.990.97Mental retardation, autosomal dominant 9614255
KIF1A134.80.990.97Neuropathy, hereditary sensory, type IIC,614213
KIF1A134.80.990.97Spastic paraplegia 30 autosomal recessive,610357
KIF2A114.40.960.88Cortical dysplasia, complex, with other brain malformations 3615411
KIF4A103.80.940.9?Mental retardation, X-linked 100300923
KIF5C126.70.990.98Cortical dysplasia, complex, with other brain malformations 2615282
KIF793.40.950.88Acrocallosal syndrome,200990
KIF793.40.950.88Joubert syndrome 12200990
KIF793.40.950.88?Al-Gazali-Bakalinova syndrome,607131
KIF793.40.950.88?Hydrolethalus syndrome 2614120
KIRREL3160.20.990.99Mental retardation, autosomal dominant 4612581
KMT2A173.80.990.98Leukemia, myeloid/lymphoid or mixed-lineage612581
KMT2A173.80.990.98Wiedemann-Steiner syndrome,605130
KMT2D162.10.990.99Kabuki syndrome 1147920
KPTN118.210.99Mental retardation, autosomal recessive 41615637
KRAS72.10.990.96Bladder cancer, somatic,109800
KRAS72.10.990.96Breast cancer, somatic,114480
KRAS72.10.990.96Cardiofaciocutaneous syndrome 2615278
KRAS72.10.990.96Gastric cancer, somatic,137215
KRAS72.10.990.96Leukemia, acute myeloid,601626
KRAS72.10.990.96Lung cancer, somatic,211980
KRAS72.10.990.96Noonan syndrome 3609942
KRAS72.10.990.96Pancreatic carcinoma, somatic,260350
KRAS72.10.990.96RAS-associated autoimmune leukoproliferative disorder,614470
KRAS72.10.990.96Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic,163200
KRBOX4193.50.990.99No OMIM phenotype163200
KRBOX4193.50.990.99nonsyndromic X-linked mental retardation (Lugtenberg et al, 2006)163200
L1CAM157.70.990.98Corpus callosum, partial agenesis of,304100
L1CAM157.70.990.98CRASH syndrome,303350
L1CAM157.70.990.98Hydrocephalus due to aqueductal stenosis,307000
L1CAM157.70.990.98Hydrocephalus with congenital idiopathic intestinal pseudoobstruction,307000
L1CAM157.70.990.98Hydrocephalus with Hirschsprung disease,307000
L1CAM157.70.990.98MASA syndrome,303350
L2HGDH139.80.980.96L-2-hydroxyglutaric aciduria,236792
LAMA1156.80.990.99Poretti-Boltshauser syndrome,615960
LAMA2164.80.990.99Muscular dystrophy, congenital merosin-deficient,607855
LAMA2164.80.990.99Muscular dystrophy, congenital, due to partial LAMA2 deficiency,607855
LAMC3135.50.980.95Cortical malformations, occipital,614115
LAMP2134.30.920.91Danon disease,300257
LARGE145.90.990.98Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6613154
LARGE145.90.990.98Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6608840
LARP761.20.770.66Alazami syndrome,615071
LIAS159.60.990.95Hyperglycinemia, lactic acidosis, and seizures,614462
LIG4181.810.99LIG4 syndrome,606593
LIG4181.810.99{Multiple myeloma, resistance to},254500
LINS157.30.990.97Mental retardation, autosomal recessive 27614340
LMAN2L143.90.990.99?Mental retardation, autosomal recessive, 52,616887
LONP1168.10.970.95CODAS syndrome,600373
LRP2199.910.99Donnai-Barrow syndrome,222448
LRPPRC140.10.980.96Leigh syndrome, French-Canadian type,220111
LZTFL1136.50.980.94Bardet-Biedl syndrome 17615994
MAGEL2153.210.99Schaaf-Yang syndrome,615547
MAGT1130.40.980.95Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia,300853
MAN1B1156.20.990.99Mental retardation, autosomal recessive 15614202
MAN2B1137.20.980.96Mannosidosis, alpha-, types I and II,248500
MANBA144.20.990.95Mannosidosis, beta,248510
MAOA142.810.99Brunner syndrome,300615
MAOA142.810.99{Antisocial behavior},300615
MAP2K1107.30.990.95Cardiofaciocutaneous syndrome 3615279
MAP2K2118.50.970.92Cardiofaciocutaneous syndrome 4615280
MAPRE2226.50.990.99Symmetric circumferential skin creases, congenital, 2616734
MAT1A196.40.990.96Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III616734
MAT1A196.40.990.96deficiency,250850
MAT1A196.40.990.96Methionine adenosyltransferase deficiency, autosomal recessive,250850
MBD5202.710.99Mental retardation, autosomal dominant 1156200
MBTPS2142.60.990.97IFAP syndrome with or without BRESHECK syndrome,308205
MBTPS2142.60.990.97Keratosis follicularis spinulosa decalvans, X-linked,308800
MBTPS2142.60.990.97?Olmsted syndrome, X-linked,300918
MCCC1169.50.990.993-Methylcrotonyl-CoA carboxylase 1 deficiency,210200
MCCC21420.990.983-Methylcrotonyl-CoA carboxylase 2 deficiency,210210
MCOLN1166.60.980.96Mucolipidosis IV,252650
MCPH1155.40.990.97Microcephaly 1 primary, autosomal recessive,251200
MECP21000.990.94Encephalopathy, neonatal severe,300673
MECP21000.990.94Mental retardation, X-linked syndromic, Lubs type,300260
MECP21000.990.94Mental retardation, X-linked, syndromic 13300055
MECP21000.990.94Rett syndrome,312750
MECP21000.990.94Rett syndrome, atypical,312750
MECP21000.990.94Rett syndrome, preserved speech variant,312750
MECP21000.990.94{Autism susceptibility, X-linked 3},300496
MED12116.50.980.95Lujan-Fryns syndrome,309520
MED12116.50.980.95Ohdo syndrome, X-linked,300895
MED12116.50.980.95Opitz-Kaveggia syndrome,305450
MED13L151.710.99Mental retardation and distinctive facial features with or without cardiac defects,616789
MED13L151.710.99Transposition of the great arteries, dextro-looped 1608808
MED17148.50.990.96Microcephaly, postnatal progressive, with seizures and brain atrophy,613668
MED23146.70.980.96Mental retardation, autosomal recessive 18614249
MEF2C142.40.980.93Chromosome 5q14,3 deletion syndrome,613443
MEF2C142.40.980.93Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations,613443
METTL23150.311Mental retardation, autosomal recessive 44615942
MGAT2168.810.99Congenital disorder of glycosylation, type IIa,212066
MICU11400.950.91Myopathy with extrapyramidal signs,615673
MID1196.60.990.98Opitz GBBB syndrome, type I,300000
MID2163.10.990.98?Mental retardation, X-linked 101300928
MKKS239.60.890.89Bardet-Biedl syndrome 6605231
MKKS239.60.890.89McKusick-Kaufman syndrome,236700
MLC1109.910.99Megalencephalic leukoencephalopathy with subcortical cysts,604004
MLYCD93.20.940.91Malonyl-CoA decarboxylase deficiency,248360
MMAA201.90.990.99Methylmalonic aciduria, vitamin B12-responsive,251100
MMACHC205.311Methylmalonic aciduria and homocystinuria, cblC type,277400
MMADHC82.80.870.74Homocystinuria, cblD type, variant 1277410
MMADHC82.80.870.74Methylmalonic aciduria and homocystinuria, cblD type,277410
MMADHC82.80.870.74Methylmalonic aciduria, cblD type, variant 2277410
MOCS192.20.980.93Molybdenum cofactor deficiency A,252150
MOCS2156.70.990.98Molybdenum cofactor deficiency B,252160
MOGS121.30.990.98Congenital disorder of glycosylation, type IIb,606056
MPDU1131.910.99Congenital disorder of glycosylation, type If,609180
MPDZ176.70.980.96Hydrocephalus, nonsyndromic, autosomal recessive 2615219
MPLKIP87.30.940.81Trichothiodystrophy 4 nonphotosensitive,234050
MRPL369.90.890.78Combined oxidative phosphorylation deficiency 9614582
MRPS22150.80.950.91Combined oxidative phosphorylation deficiency 5611719
MTHFR153.210.99Homocystinuria due to MTHFR deficiency,236250
MTHFR153.210.99{Neural tube defects, susceptibility to},601634
MTHFR153.210.99{Schizophrenia, susceptibility to},181500
MTHFR153.210.99{Thromboembolism, susceptibility to},188050
MTHFR153.210.99{Vascular disease, susceptibility to}188050
MTOR152.810.99Smith-Kingsmore syndrome,616638
MTR158.90.990.99Homocystinuria-megaloblastic anemia, cblG complementation type,250940
MTR158.90.990.99{Neural tube defects, folate-sensitive, susceptibility to},601634
MTRR1430.990.98Homocystinuria-megaloblastic anemia, cbl E type,236270
MTRR1430.990.98{Neural tube defects, folate-sensitive, susceptibility to},601634
MUT130.10.990.95Methylmalonic aciduria, mut(0) type,251000
MVK146.110.99Hyper-IgD syndrome,260920
MVK146.110.99Mevalonic aciduria,610377
MVK146.110.99Porokeratosis 3 multiple types,175900
MYCN102.90.940.85Feingold syndrome,164280
MYH9146.40.990.98Deafness, autosomal dominant 17603622
MYH9146.40.990.98Epstein syndrome,153650
MYH9146.40.990.98Fechtner syndrome,153640
MYH9146.40.990.98Macrothrombocytopenia and progressive sensorineural deafness,600208
MYH9146.40.990.98May-Hegglin anomaly,155100
MYH9146.40.990.98Sebastian syndrome,605249
MYO5A142.90.990.97Griscelli syndrome, type 1214450
MYT1L195.710.99Mental retardation, autosomal dominant 39616521
NAA101110.990.96Ogden syndrome,300855
NAA101110.990.96?Microphthalmia, syndromic 1309800
NAGA162.611Kanzaki disease,609242
NAGA162.611Schindler disease, type I,609241
NAGA162.611Schindler disease, type III,609241
NAGLU123.70.930.91Mucopolysaccharidosis type IIIB (Sanfilippo B),252920
NAGLU123.70.930.91?Charcot-Marie-Tooth disease, axonal, type 2V,616491
NALCN155.50.990.97Congenital contractures of the limbs and face, hypotonia, and developmental delay,616266
NALCN155.50.990.97Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419
NANS123.810.99Sponyloepimetaphyseal dysplasia, Genevieve type,610442
NBN89.50.980.94Aplastic anemia,609135
NBN89.50.980.94Leukemia, acute lymphoblastic,613065
NBN89.50.980.94Nijmegen breakage syndrome,251260
NDE110510.99Lissencephaly 4 (with microcephaly),614019
NDE110510.99?Microhydranencephaly,605013
NDP14011Exudative vitreoretinopathy 2 X-linked,305390
NDP14011Norrie disease,310600
NDST1220.211Mental retardation, autosomal recessive 46616116
NDUFA1236.810.99Mitochondrial complex I deficiency,252010
NDUFA1195.10.990.94Mitochondrial complex I deficiency,252010
NDUFA1216611Leigh syndrome due to mitochondrial complex 1 deficiency,256000
NDUFAF5104.70.970.94Mitochondrial complex 1 deficiency,252010
NDUFS1154.70.990.98Mitochondrial complex I deficiency,252010
NDUFS2120.410.99Mitochondrial complex I deficiency,252010
NDUFS3151.10.90.9Leigh syndrome due to mitochondrial complex I deficiency,256000
NDUFS3151.10.90.9Mitochondrial complex I deficiency,252010
NDUFS4175.110.98Leigh syndrome,256000
NDUFS4175.110.98Mitochondrial complex I deficiency,252010
NDUFS7132.10.990.99Leigh syndrome,256000
NDUFS8145.60.990.99Leigh syndrome due to mitochondrial complex I deficiency,256000
NDUFV1168.60.990.97Mitochondrial complex I deficiency,252010
NECAP1133.211?Epileptic encephalopathy, early infantile, 21615833
NEDD4L163.60.990.97No OMIM phenotype615833
NEDD4L163.60.990.97{Essential hypertension, association with} (Russo -2005 Hypertension 46,488)615833
NEDD4L163.60.990.97Epilepsy,photosensitive generalised (Dibbens (2007),Genes Brain Behav 6,750)615833
NEDD4L163.60.990.97Infantile spasms (Allen -2013 Nature 501,217)615833
NEDD4L163.60.990.97Impaired ENaC regulation (Fouladkou -2004 Am J Physiol Renal Physiol 287,F550)615833
NEU119.80.730.44Sialidosis, type I,256550
NEU119.80.730.44Sialidosis, type II,256550
NF1140.50.930.89Leukemia, juvenile myelomonocytic,607785
NF1140.50.930.89Neurofibromatosis, familial spinal,162210
NF1140.50.930.89Neurofibromatosis, type 1162200
NF1140.50.930.89Neurofibromatosis-Noonan syndrome,601321
NF1140.50.930.89Watson syndrome,193520
NFIA144.410.99No OMIM phenotype193520
NFIA144.410.99Brain malformation and urinary tract defect (Negishi -2015 Hum Genome Var 2)193520
NFIA144.410.99Bipolar disorder & depression (Mikhail -2011 Am J Med Genet A 155,2386)193520
NFIA144.410.99Central nervous system malformations (Koehler -2010 Eur J Pediatr 169,463)193520
NFIA144.410.99Intellectual disability with macrocephaly (Labonne -2016 Mol Cytogenet 9,24)193520
NFIX1660.980.95Marshall-Smith syndrome,602535
NFIX1660.980.95Sotos syndrome 2614753
NHS143.70.950.93Cataract 40 X-linked,302200
NHS143.70.950.93Nance-Horan syndrome,302350
NIPBL129.30.960.94Cornelia de Lange syndrome 1122470
NKX2-155.60.980.93Chorea, hereditary benign,118700
NKX2-155.60.980.93Choreoathetosis, hypothyroidism, and neonatal respiratory distress,610978
NKX2-155.60.980.93{Thyroid cancer, monmedullary, 1},188550
NLGN3153.210.99{Asperger syndrome susceptibility, X-linked 1},300494
NLGN3153.210.99{Autism susceptibility, X-linked 1},300425
NLGN4X1910.990.98Mental retardation, X-linked,300495
NLGN4X1910.990.98{Asperger syndrome susceptibility, X-linked 2},300497
NLGN4X1910.990.98{Autism susceptibility, X-linked 2},300495
NLRP3153.210.99CINCA syndrome,607115
NLRP3153.210.99Familial cold-induced inflammatory syndrome 1120100
NLRP3153.210.99Muckle-Wells syndrome,191900
NONO111.40.990.96Mental retardation, X-linked, syndromic 34300967
NPHP11410.990.97Joubert syndrome 4609583
NPHP11410.990.97Nephronophthisis 1 juvenile,256100
NPHP11410.990.97Senior-Loken syndrome-1,266900
NR2F1216.80.990.98Bosch-Boonstra-Schaaf optic atrophy syndrome,615722
NRAS205.711Colorectal cancer, somatic,114500
NRAS205.711Epidermal nevus, somatic,162900
NRAS205.711Melanocytic nevus syndrome, congenital, somatic,137550
NRAS205.711Neurocutaneous melanosis, somatic,249400
NRAS205.711Noonan syndrome 6613224
NRAS205.711Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic,163200
NRAS205.711Thyroid carcinoma, follicular, somatic,188470
NRAS205.711?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic,614470
NRXN11820.990.97Pitt-Hopkins-like syndrome 2614325
NRXN11820.990.97{Schizophrenia, susceptibility to, 17},614332
NSD1172.310.99Beckwith-Wiedemann syndrome,130650
NSD1172.310.99Leukemia, acute myeloid,601626
NSD1172.310.99Sotos syndrome 1117550
NSDHL205.20.990.99CHILD syndrome,308050
NSDHL205.20.990.99CK syndrome,300831
NSUN2128.90.950.93Mental retardation, autosomal recessive 5611091
NTRK1142.60.990.97Insensitivity to pain, congenital, with anhidrosis,256800
NTRK1142.60.990.97Medullary thyroid carcinoma, familial,155240
NUP62126.90.990.99Striatonigral degeneration, infantile,271930
OCLN215.311Band-like calcification with simplified gyration and polymicrogyria,251290
OCRL152.20.990.97Dent disease 2300555
OCRL152.20.990.97Lowe syndrome,309000
OFD156.10.840.71Joubert syndrome 10300804
OFD156.10.840.71Orofaciodigital syndrome I,311200
OFD156.10.840.71Simpson-Golabi-Behmel syndrome, type 2300209
OFD156.10.840.71?Retinitis pigmentosa 23300424
OPHN1113.40.990.96Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance,300486
ORC11250.990.97Meier-Gorlin syndrome 1224690
OTC143.910.99Ornithine transcarbamylase deficiency,311250
PACS1130.60.970.95Schuss-Hoeijmakers-syndrome,615009
PAFAH1B1116.20.890.82Lissencephaly 1607432
PAFAH1B1116.20.890.82Subcortical laminar heterotopia,607432
PAH191.311Phenylketonuria,261600
PAH191.311[Hyperphenylalaninemia, non-PKU mild],261600
PAK395.90.970.91Mental retardation, X-linked 30/47,300558
PANK2177.50.990.96HARP syndrome,607236
PANK2177.50.990.96Neurodegeneration with brain iron accumulation 1234200
PAX1126.60.870.81?Otofaciocervical syndrome 2615560
PAX6156.110.99Aniridia,106210
PAX6156.110.99Cataract with late-onset corneal dystrophy,106210
PAX6156.110.99Coloboma of optic nerve,120430
PAX6156.110.99Coloboma, ocular,120200
PAX6156.110.99Foveal hypoplasia 1136520
PAX6156.110.99Keratitis,148190
PAX6156.110.99Optic nerve hypoplasia,165550
PAX6156.110.99Peters anomaly,604229
PAX6156.110.99?Morning glory disc anomaly,120430
PAX8104.210.99Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia,218700
PC162.80.990.97Pyruvate carboxylase deficiency,266150
PCDH19226.410.99Epileptic encephalopathy, early infantile, 9300088
PCNT127.80.980.95Microcephalic osteodysplastic primordial dwarfism, type II,210720
PDE4D126.30.980.95Acrodysostosis 2 with or without hormone resistance,614613
PDE4D126.30.980.95{Stroke, susceptibility to, 1},606799
PDHA1127.80.970.92Pyruvate dehydrogenase E1-alpha deficiency,312170
PDSS1134.80.910.85Coenzyme Q10 deficiency, primary, 2614651
PDSS2131.30.970.93Coenzyme Q10 deficiency, primary, 3614652
PEPD121.40.990.98Prolidase deficiency,170100
PET100127.60.950.82Mitochondrial complex IV deficiency,220110
PEX1123.40.970.95Heimler syndrome 1234580
PEX1123.40.970.95Peroxisome biogenesis disorder 1A (Zellweger),214100
PEX1123.40.970.95Peroxisome biogenesis disorder 1B (NALD/IRD),601539
PEX10118.30.970.93Peroxisome biogenesis disorder 6A (Zellweger),614870
PEX10118.30.970.93Peroxisome biogenesis disorder 6B,614871
PEX11B123.30.990.99Peroxisome biogenesis disorder 14B,614920
PEX12165.410.99Peroxisome biogenesis disorder 3A (Zellweger),614859
PEX12165.410.99Peroxisome biogenesis disorder 3B,266510
PEX13212.20.990.98Peroxisome biogenesis disorder 11A (Zellweger),614883
PEX13212.20.990.98Peroxisome biogenesis disorder 11B,614885
PEX16138.50.960.92Peroxisome biogenesis disorder 8A, (Zellweger),614876
PEX16138.50.960.92Peroxisome biogenesis disorder 8B,614877
PEX1912110.99Peroxisome biogenesis disorder 12A (Zellweger),614886
PEX2169.711Peroxisome biogenesis disorder 5A (Zellweger),614866
PEX2169.711Peroxisome biogenesis disorder 5B,614867
PEX2686.50.990.99Peroxisome biogenesis disorder 7A (Zellweger),614872
PEX2686.50.990.99Peroxisome biogenesis disorder 7B,614873
PEX3108.80.980.94Peroxisome biogenesis disorder 10A (Zellweger),614882
PEX5126.70.990.97Peroxisome biogenesis disorder 2A (Zellweger),214110
PEX5126.70.990.97Peroxisome biogenesis disorder 2B,202370
PEX5126.70.990.97Rhizomelic chondrodysplasia punctata, type 5616716
PEX6920.90.84Heimler syndrome 2616617
PEX6920.90.84Peroxisome biogenesis disorder 4A (Zellweger),614862
PEX6920.90.84Peroxisome biogenesis disorder 4B,614863
PEX7138.50.890.85Peroxisome biogenesis disorder 9B,614879
PEX7138.50.890.85Rhizomelic chondrodysplasia punctata, type 1215100
PGAP1109.70.930.86Mental retardation, autosomal recessive 42615802
PGAP2186.111Hyperphosphatasia with mental retardation syndrome 3614207
PGAP3135.70.980.95Hyperphosphatasia with mental retardation syndrome 4615716
PGK1600.920.81Phosphoglycerate kinase 1 deficiency,300653
PHF677.90.920.83Borjeson-Forssman-Lehmann syndrome,301900
PHF8110.50.990.97Mental retardation syndrome, X-linked, Siderius type,300263
PHGDH138.610.99Neu-Laxova syndrome 1256520
PHGDH138.610.99Phosphoglycerate dehydrogenase deficiency,601815
PIGA102.10.920.84Multiple congenital anomalies-hypotonia-seizures syndrome 2300868
PIGA102.10.920.84Paroxysmal nocturnal hemoglobinuria, somatic,300818
PIGG196.90.990.99Mental retardation,autosomal recessive 53,616917
PIGL136.610.98CHIME syndrome,280000
PIGN128.60.950.89Multiple congenital anomalies-hypotonia-seizures syndrome 1614080
PIGO140.610.99Hyperphosphatasia with mental retardation syndrome 2614749
PIGT174.60.990.99Multiple congenital anomalies-hypotonia-seizures syndrome 3615398
PIGT174.60.990.99?Paroxysmal nocturnal hemoglobinuria 2615399
PIGV171.111Hyperphosphatasia with mental retardation syndrome 1239300
PIGY113.610.99Hyperphosphatasia with mental retardation syndrome 6616809
PIK3R296.50.890.86Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387
PLA2G6132.40.990.98Infantile neuroaxonal dystrophy 1256600
PLA2G6132.40.990.98Neurodegeneration with brain iron accumulation 2B,610217
PLA2G6132.40.990.98Parkinson disease 14 autosomal recessive,612953
PLCB1177.30.990.99Epileptic encephalopathy, early infantile, 12613722
PLP1162.110.99Pelizaeus-Merzbacher disease,312080
PLP1162.110.99Spastic paraplegia 2 X-linked,312920
PLXND11350.960.93No OMIM phenotype312920
PLXND11350.960.93Moebius syndrome (Tomas-Roca -2015 Nat Commun 6)312920
PLXND11350.960.93Truncus arteriosus (Ta-Shma -2013 Am J Med Genet A 161,3115)312920
PLXND11350.960.93{Diabetic nephropathy,association with} (McKnight -2009 Hugo J 3,77)312920
PMM2178.40.990.99Congenital disorder of glycosylation, type Ia,212065
PNKP98.40.990.97Ataxia-oculomotor apraxia 4616267
PNKP98.40.990.97Microcephaly, seizures, and developmental delay,613402
PNP148.510.99Immunodeficiency due to purine nucleoside phosphorylase deficiency,613179
POC1A150.510.99Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis,614813
POGZ188.20.990.98White-Sutton syndrome,616364
POLG126.20.990.99Mitochondrial DNA depletion syndrome 4A (Alpers type),203700
POLG126.20.990.99Mitochondrial DNA depletion syndrome 4B (MNGIE type),613662
POLG126.20.990.99Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE),607459
POLG126.20.990.99Progressive external ophthalmoplegia, autosomal dominant 1157640
POLG126.20.990.99Progressive external ophthalmoplegia, autosomal recessive 1258450
POLR3A162.210.99Leukodystrophy, hypomyelinating, 7 with or without oligodontia and/or hypogonadotropic258450
POLR3A162.210.99hypogonadism,607694
POLR3B168.90.990.98Leukodystrophy, hypomyelinating, 8 with or without oligodontia and/or hypogonadotropic607694
POLR3B168.90.990.98hypogonadism,614381
POMGNT1131.90.990.97Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3253280
POMGNT1131.90.990.97Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3613151
POMGNT1131.90.990.97Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3613157
POMGNT2281.811Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8614830
POMK225.311Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12615249
POMK225.311?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12616094
POMT11810.990.97Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1236670
POMT11810.990.97Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1613155
POMT11810.990.97Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1609308
POMT2120.50.980.96Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2613150
POMT2120.50.980.96Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2613156
POMT2120.50.980.96Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2613158
PORCN145.410.99Focal dermal hypoplasia,305600
POU1F1125.80.970.93Pituitary hormone deficiency, combined, 1613038
POU3F338.60.750.62No OMIM phenotype613038
POU3F338.60.750.62?Intellectual disability (Dheedene -2014 Mol Syndromol 5,32)613038
PPOX108.10.990.97Porphyria variegata,176200
PPP2R1A151.60.930.92Mental retardation, autosomal dominant 36616362
PPP2R5D163.40.990.99Mental retardation, autosomal dominant 35616355
PPT1190.411Ceroid lipofuscinosis, neuronal, 1256730
PQBP1174.30.970.96Renpenning syndrome,309500
PRODH95.80.880.82Hyperprolinemia, type I,239500
PRODH95.80.880.82{Schizophrenia, susceptibility to, 4},600850
PRPS1201.511Arts syndrome,301835
PRPS1201.511Charcot-Marie-Tooth disease, X-linked recessive, 5311070
PRPS1201.511Deafness, X-linked 1304500
PRPS1201.511Gout, PRPS-related,300661
PRPS1201.511Phosphoribosylpyrophosphate synthetase superactivity,300661
PRSS12167.70.990.98Mental retardation, autosomal recessive 1249500
PSAP126.70.990.98Combined SAP deficiency,611721
PSAP126.70.990.98Gaucher disease, atypical,610539
PSAP126.70.990.98Krabbe disease, atypical,611722
PSAP126.70.990.98Metachromatic leukodystrophy due to SAP-b deficiency,249900
PSEN1161.60.990.98Acne inversa, familial, 3613737
PSEN1161.60.990.98Alzheimer disease, type 3607822
PSEN1161.60.990.98Alzheimer disease, type 3 with spastic paraparesis and apraxia,607822
PSEN1161.60.990.98Alzheimer disease, type 3 with spastic paraparesis and unusual plaques,607822
PSEN1161.60.990.98Cardiomyopathy, dilated, 1U,613694
PSEN1161.60.990.98Dementia, frontotemporal,600274
PSEN1161.60.990.98Pick disease,172700
PTCH1138.60.980.96Basal cell carcinoma, somatic,605462
PTCH1138.60.980.96Basal cell nevus syndrome,109400
PTCH1138.60.980.96Holoprosencephaly-7,610828
PTCHD1176.610.99{Autism, susceptibility to, X-linked 4},300830
PTDSS1151.711Lenz-Majewski hyperostotic dwarfism,151050
PTEN152.40.990.98Bannayan-Riley-Ruvalcaba syndrome,153480
PTEN152.40.990.98Cowden syndrome 1158350
PTEN152.40.990.98Endometrial carcinoma, somatic,608089
PTEN152.40.990.98Lhermitte-Duclos syndrome,158350
PTEN152.40.990.98Macrocephaly/autism syndrome,605309
PTEN152.40.990.98Malignant melanoma, somatic,155600
PTEN152.40.990.98PTEN hamartoma tumor syndrome155600
PTEN152.40.990.98Squamous cell carcinoma, head and neck, somatic,275355
PTEN152.40.990.98VATER association with macrocephaly and ventriculomegaly,276950
PTEN152.40.990.98{Glioma susceptibility 2},613028
PTEN152.40.990.98{Meningioma},607174
PTEN152.40.990.98{Prostate cancer, somatic},176807
PTPN11101.20.960.9LEOPARD syndrome 1151100
PTPN11101.20.960.9Leukemia, juvenile myelomonocytic, somatic,607785
PTPN11101.20.960.9Metachondromatosis,156250
PTPN11101.20.960.9Noonan syndrome 1163950
PTS128.20.970.89Hyperphenylalaninemia, BH4-deficient, A,261640
PUF60182.70.990.98Verheij syndrome,615583
PURA125.20.980.95Mental retardation, autosomal dominant 31616158
PUS1150.80.990.96Myopathy, lactic acidosis, and sideroblastic anemia 1600462
PUS3231.811?Mental retardation, autosomal recessive 55617051
PUS7174.80.990.97No OMIM phenotype617051
PYCR1105.40.990.94Cutis laxa, autosomal recessive, type IIB,612940
PYCR1105.40.990.94Cutis laxa, autosomal recessive, type IIIB,614438
PYCR2137.60.990.98Leukodystrophy, hypomyelinating, 10616420
QARS167.310.99Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy,615760
QDPR88.510.99Hyperphenylalaninemia, BH4-deficient, C,261630
RAB18102.50.950.85Warburg micro syndrome 3614222
RAB27A17810.98Griscelli syndrome, type 2607624
RAB39B139.410.99Mental retardation, X-linked 72300271
RAB39B139.410.99?Waisman syndrome,311510
RAB3GAP1143.30.990.98Warburg micro syndrome 1600118
RAB3GAP2104.50.970.93Martsolf syndrome,212720
RAB3GAP2104.50.970.93Warburg micro syndrome 2614225
RAB40AL165.711No OMIM phenotype614225
RAD2197.70.990.96Cornelia de Lange syndrome 4614701
RAF113810.99Cardiomyopathy, dilated, 1NN,615916
RAF113810.99LEOPARD syndrome 2611554
RAF113810.99Noonan syndrome 5611553
RAI1142.210.99Smith-Magenis syndrome,182290
RARS2126.30.990.98Pontocerebellar hypoplasia, type 6611523
RBM10125.80.990.98TARP syndrome,311900
RBM28160.711?Alopecia, neurologic defects, and endocrinopathy syndrome,612079
RBPJ86.40.930.85Adams-Oliver syndrome 3614814
RELN181.510.99Lissencephaly 2 (Norman-Roberts type),257320
RELN181.510.99{Epilepsy, familial temporal lobe, 7},616436
RERE83.20.960.92Neurodevelopmental disorder with or without anomalies of the brain,eye or heart,616975
REV3L156.30.980.96No OMIM phenotype616975
REV3L156.30.980.96Moebius syndrome (Tomas-Roca -2015 Nat Commun 6)616975
REV3L156.30.980.96{Psoriasis,association with} (Strange -2010 Nat Genet 42,985)616975
REV3L156.30.980.96{Colorectal cancer,increased risk,association with} (Webb -2006 Hum Mol Genet 15,3263)616975
RFT1118.80.990.97Congenital disorder of glycosylation, type In,612015
RIT1184.411Noonan syndrome 8615355
RLIM140.90.990.98Mental Retardation, X-linked 61300978
RMND1142.90.990.96Combined oxidative phosphorylation deficiency 11614922
RMND1142.90.990.96RMRP NC NC NC Anauxetic dysplasia,607095
RMND1142.90.990.96Cartilage-hair hypoplasia,250250
RMND1142.90.990.96Metaphyseal dysplasia without hypotrichosis,250460
RNASEH2A149.310.99Aicardi-Goutieres syndrome 4610333
RNASEH2B125.10.940.84Aicardi-Goutieres syndrome 2610181
RNASEH2C207.60.990.97Aicardi-Goutieres syndrome 3610329
RNASET289.10.910.84Leukoencephalopathy, cystic, without megalencephaly,612951
ROGDI1340.970.95Kohlschutter-Tonz syndrome,226750
RPGRIP1L153.60.950.93COACH syndrome,216360
RPGRIP1L153.60.950.93Joubert syndrome 7611560
RPGRIP1L153.60.950.93Meckel syndrome 5611561
RPL1088.90.980.92{Autism, susceptibility to, X-linked 5},300847
RPS6KA399.50.940.87Coffin-Lowry syndrome,303600
RPS6KA399.50.940.87Mental retardation, X-linked 19300844
RTEL1127.40.990.96Dyskeratosis congenita, autosomal dominant 4615190
RTEL1127.40.990.96Dyskeratosis congenita, autosomal recessive 5615190
RTEL1127.40.990.96Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3616373
RTTN152.50.970.95Microcephaly,short stature,and polymicrogyria with seizures,614833
SALL1147.90.990.98Townes-Brocks branchiootorenal-like syndrome,107480
SALL1147.90.990.98Townes-Brocks syndrome,107480
SATB2120.10.980.93Glass syndrome,612313
SBDS210.40.990.99Shwachman-Diamond syndrome,260400
SBDS210.40.990.99{Aplastic anemia, susceptibility to},609135
SC5D227.60.990.98Lathosterolosis,607330
SCN1A157.30.990.98Dravet syndrome,607208
SCN1A157.30.990.98Epilepsy, generalized, with febrile seizures plus, type 2604403
SCN1A157.30.990.98Febrile seizures, familial, 3A,604403
SCN1A157.30.990.98Migraine, familial hemiplegic, 3609634
SCN2A170.40.990.97Epileptic encephalopathy, early infantile, 11613721
SCN2A170.40.990.97Seizures, benign familial infantile, 3607745
SCN8A224.30.990.99Epileptic encephalopathy, early infantile, 13614558
SCN8A224.30.990.99?Cognitive impairment with or without cerebellar ataxia,614306
SCO2113.310.99Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1604377
SCO2113.310.99Myopia 6608908
SDHA117.40.840.78Cardiomyopathy, dilated, 1GG,613642
SDHA117.40.840.78Leigh syndrome,256000
SDHA117.40.840.78Mitochondrial respiratory chain complex II deficiency,252011
SDHA117.40.840.78Paragangliomas 5614165
SEPSECS1850.990.99Pontocerebellar hypoplasia type 2D,613811
SERAC1125.50.980.943-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome,614739
SETBP1149.30.970.96Mental retardation, autosomal dominant 29616078
SETBP1149.30.970.96Schinzel-Giedion midface retraction syndrome,269150
SETD1A124.50.980.96No OMIM phenotype269150
SETD1A124.50.980.96Schizophrenia (Takata -2014 Neuron 82 723)269150
SETD2170.90.990.99Luscan-Lumish syndrome,616831
SETD5203.50.990.99Mental retardation, autosomal dominant 23615761
SGSH146.80.970.94Mucopolysaccharidisis type IIIA (Sanfilippo A),252900
SHANK21470.990.99{Autism susceptibility 17},613436
SHANK382.50.830.73Phelan-McDermid syndrome,606232
SHANK382.50.830.73{Schizophrenia 15},613950
SHH110.40.980.94Holoprosencephaly-3,142945
SHH110.40.980.94Microphthalmia with coloboma 5611638
SHH110.40.980.94Schizencephaly,269160
SHH110.40.980.94Single median maxillary central incisor,147250
SHOC2148.90.990.98Noonan-like syndrome with loose anagen hair,607721
SHROOM4115.80.990.98?Stocco dos Santos X-linked mental retardation syndrome,300434
SIK199.20.980.94Epileptic encephalopathy, early infantile, 30616341
SIL1173.80.990.98Marinesco-Sjogren syndrome,248800
SIN3A171.20.990.98No OMIM phenotype248800
SIN3A171.20.990.98?Diaphragmatic hernia,congenital (Yu -2015 Hum Mol Genet 24,4764)248800
SIX3157.30.990.96Holoprosencephaly-2,157170
SIX3157.30.990.96Schizencephaly,269160
SKI90.10.980.95Shprintzen-Goldberg syndrome,182212
SLC12A6169.610.99Agenesis of the corpus callosum with peripheral neuropathy,218000
SLC13A5176.911Epileptic encephalopathy, early infantile, 25615905
SLC16A269.60.960.86Allan-Herndon-Dudley syndrome,300523
SLC17A5123.80.970.93Salla disease,604369
SLC17A5123.80.970.93Sialic acid storage disorder, infantile,269920
SLC19A3191.311Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),269920
SLC19A3191.311Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483
SLC1A1221.310.99Dicarboxylic aminoaciduria,222730
SLC1A1221.310.99{?Schizophrenia susceptibility 18},615232
SLC1A4176.80.990.97Spastic tetraplegia, thin corpus callosum, and progressive microcephaly,616657
SLC25A121650.990.98Epileptic encephalopathy, early infantile, 39612949
SLC25A15228.70.980.95Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome,238970
SLC25A22117.10.990.96Epileptic encephalopathy, early infantile, 3609304
SLC2A1183.511Dystonia 9601042
SLC2A1183.511GLUT1 deficiency syndrome 1 infantile onset, severe,606777
SLC2A1183.511GLUT1 deficiency syndrome 2 childhood onset,612126
SLC2A1183.511Stomatin-deficient cryohydrocytosis with neurologic defects,608885
SLC2A1183.511{Epilepsy, idiopathic generalized, susceptibility to, 12},614847
SLC33A1148.50.960.89Congenital cataracts, hearing loss, and neurodegeneration,614482
SLC33A1148.50.960.89Spastic paraplegia 42 autosomal dominant,612539
SLC35A2118.70.990.96Congenital disorder of glycosylation, type IIm,300896
SLC35C12300.990.97Congenital disorder of glycosylation, type IIc,266265
SLC39A8145.110.99Congenital disorder of glycosylation, type IIn,616721
SLC4A4150.30.990.98Renal tubular acidosis, proximal, with ocular abnormalities,604278
SLC6A17220.510.99Mental retardation, autosomal recessive 48616269
SLC6A3153.510.99Parkinsonism-dystonia, infantile,613135
SLC6A3153.510.99{Nicotine dependence, protection against},188890
SLC6A861.10.920.82Cerebral creatine deficiency syndrome 1300352
SLC7A7127.211Lysinuric protein intolerance,222700
SLC9A6126.90.970.9Mental retardation, X-linked syndromic, Christianson type,300243
SMAD4132.50.990.98Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,175050
SMAD4132.50.990.98Myhre syndrome,139210
SMAD4132.50.990.98Pancreatic cancer, somatic,260350
SMAD4132.50.990.98Polyposis, juvenile intestinal,174900
SMARCA2131.10.960.94Nicolaides-Baraitser syndrome,601358
SMARCA4156.70.990.98Coffin-Siris syndrome 4614609
SMARCA4156.70.990.98{Rhabdoid tumor predisposition syndrome 2},613325
SMARCB1248.911Coffin-Siris syndrome 3614608
SMARCB1248.911Rhabdoid tumors, somatic,609322
SMARCB1248.911{Rhabdoid predisposition syndrome 1},609322
SMARCB1248.911{Schwannomatosis-1, susceptibility to},162091
SMARCE186.70.960.88Coffin-Siris syndrome 5,616938
SMARCE186.70.960.88{Meningioma, familial, susceptibility to},607174
SMC1A12010.99Cornelia de Lange syndrome 2,30059607174
SMC395.10.930.86Cornelia de Lange syndrome 3610759
SMOC1132.20.990.97Microphthalmia with limb anomalies,206920
SMPD1134.30.990.97Niemann-Pick disease, type A,257200
SMPD1134.30.990.97Niemann-Pick disease, type B,607616
SMS70.10.880.76Mental retardation, X-linked, Snyder-Robinson type,309583
SNAP29160.111Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome,609528
SNIP1156.60.990.96Psychomotor retardation, epilepsy, and craniofacial dysmorphism,614501
SNRPN130.40.990.93Prader-Willi syndrome,176270
SNX1476.20.920.82Spinocerebellar ataxia, autosomal recessive 20616354
SOBP119.10.950.88Mental retardation, anterior maxillary protrusion, and strabismus,613671
SON168.20.980.94No OMIM phenotype613671
SON168.20.980.94?Schizophrenia (Fromer -2014 Nature 506,179)613671
SON168.20.980.94?Developmental delay,seizure disorder,macrocephaly and white matter abnormalities (Zhu -2015 Genet613671
SON168.20.980.94Med)613671
SOS1106.90.960.9Noonan syndrome 4610733
SOS1106.90.960.9?Fibromatosis, gingival, 1135300
SOX1080.40.970.93PCWH syndrome,609136
SOX1080.40.970.93Waardenburg syndrome, type 2E, with or without neurologic involvement,611584
SOX1080.40.970.93Waardenburg syndrome, type 4C,613266
SOX11125.80.990.97Mental retardation, autosomal dominant, 27615866
SOX2111.40.990.97Microphthalmia, syndromic 3206900
SOX2111.40.990.97Optic nerve hypoplasia and abnormalities of the central nervous system,206900
SOX345.50.940.8Mental retardation, X-linked, with isolated growth hormone deficiency,300123
SOX345.50.940.8Panhypopituitarism, X-linked,312000
SOX51200.990.97Lamb-Shaffer syndrome,616803
SPATA5146.60.990.99Epilepsy, hearing loss, and mental retardation syndrome,616577
SPG11146.90.980.96Amyotrophic lateral sclerosis 5 juvenile,602099
SPG11146.90.980.96Charcot-Marie-Tooth disease, axonal, type 2X,616668
SPG11146.90.980.96Spastic paraplegia 11 autosomal recessive,604360
SPRED1187.20.980.96Legius syndrome,611431
SPTAN1139.40.990.98Epileptic encephalopathy, early infantile, 5613477
SPTBN2122.10.990.99Spinocerebellar ataxia 5600224
SPTBN2122.10.990.99Spinocerebellar ataxia, autosomal recessive 14615386
SRCAP162.70.990.98Floating-Harbor syndrome,136140
SRD5A3166.90.990.99Congenital disorder of glycosylation, type Iq,612379
SRD5A3166.90.990.99Kahrizi syndrome,612713
SRPX290.50.990.98?Rolandic epilepsy, mental retardation, and speech dyspraxia,300643
ST3GAL3193.711Epileptic encephalopathy, early infantile, 15615006
ST3GAL3193.711Mental retardation, autosomal recessive 12611090
ST3GAL5138.40.950.94Amish infantile epilepsy syndrome,609056
STAMBP130.10.990.96Microcephaly-capillary malformation syndrome,614261
STIL172.50.990.98Microcephaly 7 primary, autosomal recessive,612703
STRA613111Microphthalmia, isolated, with coloboma 8601186
STRA613111Microphthalmia, syndromic 9601186
STT3A192.311?Congenital disorder of glycosylation, type Iw,615596
STT3B137.90.990.96?Congenital disorder of glycosylation, type Ix,615597
STX1B185.610.99Generalized epilepsy with febrile seizures plus, type 9616172
STXBP1147.911Epileptic encephalopathy, early infantile, 4612164
SUCLA269.40.920.82Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria),612164
SUCLA269.40.920.82Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria),612073
SUCLG1111.30.990.97Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),612073
SUCLG1111.30.990.97Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400
SUOX219.511Sulfite oxidase deficiency,272300
SURF1970.890.88Charcot-Marie-Tooth disease, type 4K,616684
SURF1970.890.88Leigh syndrome, due to COX IV deficiency,256000
SYN179.60.830.7Epilepsy, X-linked, with variable learning disabilities and behavior disorders,300491
SYNE1156.80.990.99Emery-Dreifuss muscular dystrophy 4 autosomal dominant,612998
SYNE1156.80.990.99Spinocerebellar ataxia, autosomal recessive 8610743
SYNGAP1750.950.86Mental retardation, autosomal dominant 5612621
SYP77.80.990.95Mental retardation, X-linked 96300802
SYT14189.80.920.84Spinocerebellar ataxia, autosomal recessive 11614229
SZT2157.50.990.99Epileptic encephalopathy, early infantile, 18615476
TAF1141.10.990.97Dystonia-Parkinsonism, X-linked,314250
TAF1141.10.990.97Mental retardation, X-linked, syndromic 33300966
TAF2136.80.980.94Mental retardation, autosomal recessive 40615599
TAT141.911Tyrosinemia, type II,276600
TBC1D20163.70.940.94Warburg micro syndrome 4615663
TBC1D24178.810.99Deafness , autosomal recessive 86614617
TBC1D24178.810.99Deafness, autosomal dominant 65616044
TBC1D24178.810.99DOOR syndrome,220500
TBC1D24178.810.99Epileptic encephalopathy, early infantile, 16615338
TBC1D24178.810.99Myoclonic epilepsy, infantile, familial,605021
TBC1D7118.10.970.94Macrocephaly/megalencephaly syndrome, autosomal recessive,248000
TBCE151.60.990.98Hypoparathyroidism-retardation-dysmorphism syndrome,241410
TBCE151.60.990.98Kenny-Caffey syndrome, type 1244460
TBCK97.60.950.89Hypotonia, infantile, with psychomotor retardation and characteristic facies 3,6169244460
TBL1XR197.30.90.75Mental retardation, autosomal dominant 41,616944
TBL1XR197.30.90.75Piermont syndrome,602342
TBR1116.80.990.97No OMIM phenotype602342
TBR1116.80.990.97Intellectual disability (Hamdan -2014 PLoS Genet 10)602342
TBR1116.80.990.97?Autism (O'Roak -2012 Science 338,1619)602342
TBR1116.80.990.97?Ventriculomegaly (Traylor -2012 Mol Syndromol 3,102)602342
TCF4160.10.990.99Corneal dystrophy, Fuchs endothelial, 3613267
TCF4160.10.990.99Pitt-Hopkins syndrome,610954
TCTN3135.80.990.99Joubert syndrome 18614815
TCTN3135.80.990.99Orofaciodigital syndrome IV,258860
TECR96.40.990.97Mental retardation, autosomal recessive 14614020
TELO2111.50.980.93You-Hoover-Fong syndrome,616954
TFAP2A13810.99Branchiooculofacial syndrome,113620
TGFBR1213.80.950.93Loeys-Dietz syndrome 1609192
TGFBR1213.80.950.93{Multiple self-healing squamous epithelioma, susceptibility to},132800
TGFBR2215.311Colorectal cancer, hereditary nonpolyposis, type 6614331
TGFBR2215.311Esophageal cancer, somatic,133239
TGFBR2215.311Loeys-Dietz syndrome 2610168
TGIF1151.60.990.99Holoprosencephaly-4,142946
TH83.60.970.92Segawa syndrome, recessive,605407
THOC292.70.950.87Mental retardation, X-linked 12/35,300957
THOC626210.99Beaulieu-Boycott-Innes syndrome,613680
THRB189.50.990.99Thyroid hormone resistance,188570
THRB189.50.990.99Thyroid hormone resistance, autosomal recessive,274300
THRB189.50.990.99Thyroid hormone resistance, selective pituitary,145650
TIMM8A45.50.870.7Jensen syndrome,311150
TIMM8A45.50.870.7Mohr-Tranebjaerg syndrome,304700
TINF2196.810.99Dyskeratosis congenita, autosomal dominant 3613990
TINF2196.810.99Revesz syndrome,268130
TMCO1105.10.990.98Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome,213980
TMEM165122.20.980.96Congenital disorder of glycosylation, type IIk,614727
TMEM231103.40.990.98Joubert syndrome 20614970
TMEM231103.40.990.98Meckel syndrome 11615397
TMEM237115.60.990.96Joubert syndrome 14614424
TMEM240130.510.99Spinocerebellar ataxia 21607454
TMEM6778.90.920.83COACH syndrome,216360
TMEM6778.90.920.83Joubert syndrome 6610688
TMEM6778.90.920.83Meckel syndrome 3607361
TMEM6778.90.920.83Nephronophthisis 11613550
TMEM6778.90.920.83{Bardet-Biedl syndrome 14 modifier of},615991
TMEM70152.60.950.91Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2614052
TMLHE116.60.990.96{Autism,susceptibility to,X-linked 6},300872
TNIK128.40.990.98Mental retardation, autosomal recessive 54617028
TPP1158.711Ceroid lipofuscinosis, neuronal, 2204500
TPP1158.711Spinocerebellar ataxia, autosomal recessive 7609270
TRAPPC11140.70.980.95Muscular dystrophy, limb-girdle, type 2S,615356
TRAPPC915410.99Mental retardation, autosomal recessive 13613192
TREX1272.211Aicardi-Goutieres syndrome 1 dominant and recessive,225750
TREX1272.211Chilblain lupus,610448
TREX1272.211Vasculopathy, retinal, with cerebral leukodystrophy,192315
TREX1272.211{Systemic lupus erythematosus, susceptibility to},152700
TRIM32152.911Muscular dystrophy, limb-girdle, type 2H,254110
TRIM32152.911?Bardet-Biedl syndrome 11615988
TRIO154.10.980.96Mental retardation, autosomal dominant 44,617061
TRMT10A157.20.990.98Microcephaly, short stature, and impaired glucose metabolism 1616033
TSC1149.60.990.98Lymphangioleiomyomatosis,606690
TSC1149.60.990.98Tuberous sclerosis-1,191100
TSC2144.50.990.98Lymphangioleiomyomatosis, somatic,606690
TSC2144.50.990.98Tuberous sclerosis-2,613254
TSEN5494.90.940.9Pontocerebellar hypoplasia type 2A,277470
TSEN5494.90.940.9Pontocerebellar hypoplasia type 4225753
TSEN5494.90.940.9?Pontocerebellar hypoplasia type 5610204
TSPAN7145.40.990.99Mental retardation, X-linked 58300210
TTC19106.20.90.81Mitochondrial complex III deficiency, nuclear type 2615157
TTC371390.990.97Trichohepatoenteric syndrome 1222470
TTC8109.10.980.93Bardet-Biedl syndrome 8615985
TTC8109.10.980.93?Retinitis pigmentosa 51613464
TTI2114.20.990.98Mental retardation, autosomal recessive 39615541
TUBA1A117.10.990.97Lissencephaly 3611603
TUBA8178.310.99Polymicrogyria with optic nerve hypoplasia,613180
TUBB21.40.780.5Cortical dysplasia, complex, with other brain malformations 6615771
TUBB21.40.780.5Symmetric circumferential skin creases, congenital, 1156610
TUBB2B109.811Polymicrogyria, symmetric or asymmetric,610031
TUBB3208.40.990.98Cortical dysplasia, complex, with other brain malformations 1614039
TUBB3208.40.990.98Fibrosis of extraocular muscles, congenital, 3A,600638
TUBB4A1370.960.95Dystonia 4 torsion, autosomal dominant,128101
TUBB4A1370.960.95Leukodystrophy, hypomyelinating, 6612438
TUBG1185.911Cortical dysplasia, complex, with other brain malformations 4615412
TUBGCP4158.90.990.96Microcephaly and chorioretinopathy, autosomal recessive, 3616335
TUBGCP6162.610.99Microcephaly and chorioretinopathy, autosomal recessive, 1251270
TUSC3153.50.990.98Mental retardation, autosomal recessive 7611093
TWIST11430.950.86Craniosynostosis, type 1123100
TWIST11430.950.86Robinow-Sorauf syndrome,180750
TWIST11430.950.86Saethre-Chotzen syndrome with eyelid anomalies,101400
TWIST11430.950.86Saethre-Chotzen syndrome,101400
UBE2A115.30.990.95Mental retardation, X-linked syndromic, Nascimento-type,300860
UBE3A103.90.980.93Angelman syndrome,105830
UBE3B145.810.99Kaufman oculocerebrofacial syndrome,244450
UBR1144.40.980.95Johanson-Blizzard syndrome,243800
UNC80146.10.990.98Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801
UPB1177.211Beta-ureidopropionase deficiency,613161
UPF3B58.20.920.8Mental retardation, X-linked, syndromic 14300676
UQCRQ162.510.99Mitochondrial complex III deficiency, nuclear type 4615159
UROC115010.99?Urocanase deficiency,276880
USP9X142.50.970.92Mental retardation, X-linked 99300919
USP9X142.50.970.92Mental retardation, X-linked 99 syndromic, female-restricted,300968
VLDLR244.510.99Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1224050
VPS13B156.80.980.96Cohen syndrome,216550
VPS37A79.70.860.69Spastic paraplegia 53 autosomal recessive,614898
VPS53153.10.910.9Pontocerebellar hypoplasia, type 2E,615851
VRK11470.980.95Pontocerebellar hypoplasia type 1A,607596
WAC186.70.990.96Desanto-Shinawi syndrome,616708
WDR19153.50.990.97Nephronophthisis 13614377
WDR19153.50.990.97Senior-Loken syndrome 8616307
WDR19153.50.990.97?Cranioectodermal dysplasia 4614378
WDR19153.50.990.97?Short-rib thoracic dysplasia 5 with or without polydactyly,614376
WDR4592.90.970.92Neurodegeneration with brain iron accululation 5300894
WDR62170.90.990.98Microcephaly 2 primary, autosomal recessive, with or without cortical malformations,604317
WDR73151.110.99Galloway-Mowat syndrome,251300
WDR81171.30.990.99Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185
WWOX14810.99Epileptic encephalopathy, early infantile, 28616211
WWOX14810.99Esophageal squamous cell carcinoma, somatic,133239
WWOX14810.99Spinocrebellar ataxia, autosomal recessive 12614322
XPA58.30.950.84Xeroderma pigmentosum, group A,278700
XPNPEP3148.80.980.97Nephronophthisis-like nephropathy 1613159
XYLT1148.30.930.88Desbuquois dysplasia 2615777
XYLT1148.30.930.88{Pseudoxanthoma elasticum, modifier of severity of},264800
YAP1115.40.860.79Coloboma, ocular,120433
YAP1115.40.860.79Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation,120433
YWHAE116.30.990.96No OMIM phenotype120433
YWHAE116.30.990.96Develomental delay,facial dysmorphology and growth retardation (Enomoto -2012 Am J Med Genet A120433
YWHAE116.30.990.96158A)120433
YWHAE116.30.990.96Developmental delay and mild brain structural abnormalities (Bi -2009 Nat Genet 41,168)120433
ZBTB16167.611Leukemia, acute promyelocytic, PL2F/RARA type120433
ZBTB16167.611Skeletal defects, genital hypoplasia, and mental retardation,612447
ZBTB18221.50.990.98?Mental retardation, autosomal dominant 22612337
ZBTB20248.611Primrose syndrome,259050
ZBTB24191.311Immunodeficiency-centromeric instability-facial anomalies syndrome-2,614069
ZC3H14213.60.990.97No OMIM phenotype614069
ZDHHC15104.90.980.94?Mental retardation, X-linked 91300577
ZDHHC968.60.990.92Mental retardation, X-linked syndromic, Raymond type,300799
ZEB2181.510.99Mowat-Wilson syndrome,235730
ZFYVE26134.10.990.99Spastic paraplegia 15 autosomal recessive,270700
ZIC120711Craniosynostosis 6616602
ZIC2111.10.890.79Holoprosencephaly-5,609637
ZMYND11144.90.990.99Mental retardation, autosomal dominant 30616083
ZNF41136.410.99Mental retardation, X-linked 89300848
ZNF592140.610.99Spinocerebellar ataxia, autosomal recessive 5251300
ZNF674146.611Mental retardation, X-linked 92300851
ZNF711172.80.980.96Mental retardation, X-linked 97300803
ZNF81109.50.990.96Mental retardation, X-linked 45300498
ZSWIM6173.40.950.92Acromelic frontonasal dysostosis,603671

Un análisis para cada médico especialista… y para todos.

Descarga el consentimiento informado AQUÍ

Accede a la plataforma de pedidos Pedido sin plataforma
¿Cómo solicitar un test?
1) Preparar la hoja de solicitud del test

Cumplimentar toda la información disponible, especialmente fecha de nacimiento y sexo. Puede ser desde la plataforma (intranet) de pedidos, o bien mediante el documento en PDF.

2) Imprimir la hoja de solicitud.

Una vez debidamente cumplimentada, imprimir y firmar.

3) Recoger la muestra correspondiente.

Destacar la importancia de identificar correctamente la muestra con el nombre o identificador indicado en la solicitud.

4) Preparar adecuadamente para el envío.

Proteger la muestra biológica y adjuntar la hoja de solicitud y el consentimiento informado.

5) Solicitar la recogida de la muestra al 932 301 270
Requisitos de las muestras biológicas
  • Sangre EDTA: 1 tubo de 3-5mL (niños 1mL mínimo).
  • Alternativamente se puede solicitar kit de recogida de saliva o células bucales.
  • Sangre en papel: un mínimo de 10 spots en tarjeta Guthrie o papel de filtro.
Preparación para el envío
Llámenos al 932 301 270 cuando tenga todo preparado y pasaremos a recoger sus muestras.

Las muestras de sangre en EDTA, ADN purificado, saliva y sangre en papel son estables a temperatura ambiente durante 3 o 4 días. Las muestras pueden mandarse, convenientemente protegidas, por correo ordinario o mensajería.