ACTB |
Baraitser-Winter syndrome 1; Dystonia, juvenile-onset |
ACTG1 |
Baraitser-Winter syndrome 2 |
ADGRG1 |
Polymicrogyria, bilateral frontoparietal;Polymicrogyria, bilateral perisylvian |
AHI1 |
Joubert syndrome 3 |
AKT1 |
Cowden syndrome 6 |
AKT3 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
AMPD2 |
Pontocerebellar hypoplasia, type 9; Spastic paraplegia 63 |
AMT |
Glycine encephalopathy |
ANKLE2 |
Microcephaly 16, primary, autosomal recessive |
APC2 |
Cortical dysplasia, complex, with other brain malformations 10;Sotos syndrome 3 |
AP4B1 |
Spastic paraplegia 47 |
AP4E1 |
Spastic paraplegia 51; Stuttering, familial persistent, 1 |
AP4M1 |
Spastic paraplegia 50, autosomal recessive |
AP4S1 |
Spastic paraplegia 52, autosomal recessive |
ARFGEF2 |
Periventricular heterotopia with microcephaly |
ARL13B |
Joubert syndrome 8 |
ARX |
Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2;Mental retardation, X-linked 29 and others; Partington syndrome;Proud syndrome |
ASNS |
Asparagine synthetase deficiency |
ASPM |
Microcephaly 5, primary, autosomal recessive |
ATP6V0A2 |
Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome |
ATR |
Seckel syndrome 1; Cutaneous telangiectasia and cancer syndrome,familial |
ATRX |
Mental retardation-hypotonic facies syndrome, X-linked;Alpha-thalassemia/mental retardation syndrome;Alpha-thalassemia myelodysplasia syndrome, somatic |
B9D1 |
Joubert syndrome 27; Meckel syndrome 9 |
B9D2 |
Joubert syndrome 34; Meckel syndrome 10 |
BICD2 |
Spinal muscular atrophy, lower extremity-predominant, 2A;Spinal muscular atrophy, lower extremity-predominant, 2B |
B3GALNT2 |
Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies, type A, 11 |
B3GNT1 |
Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies), type A, 13 |
CASK |
Mental retardation, with or without nystagmus;Mental retardation and microcephalywith pontine and cerebellar hypoplasia |
C2CD3 |
Orofaciodigital syndrome XIV |
CC2D2A |
COACH syndrome; Joubert syndrome 9; Meckel syndrome 6 |
CCDC22 |
Ritscher-Schinzel syndrome 2 |
CCND2 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalussyndrome 3 |
CDC45 |
Meier-Gorlin syndrome 7 |
CDC6 |
Meier-Gorlin syndrome 5 |
CDK6 |
Microcephaly 12, primary |
CDK5RAP2 |
Microcephaly 3, primary, autosomal recessive |
CDON |
Holoprosencephaly 11 |
CDT1 |
Meier-Gorlin syndrome 4 |
CENPE |
Microcephaly 13, primary |
CENPF |
Stromme syndrome |
CENPJ |
Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 |
CEP120 |
Joubert syndrome 31;Short-rib thoracic dysplasia 13 with or without polydactyly |
CEP135 |
Microcephaly 8, primary, autosomal recessive |
CEP290 |
Senior-Loken syndrome 6; Meckel syndrome 4; Joubert syndrome 5 |
CEP152 |
Microcephaly 9, primary, autosomal recessive; Seckel syndrome 5 |
CEP63 |
Seckel syndrome 6 |
CEP41 |
Joubert syndrome 15 |
CHD7 |
CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia |
CHMP1A |
Pontocerebellar hypoplasia, type 8 |
CIT |
Microcephaly 17, primary |
CLP1 |
Pontocerebellar hypoplasia, type 10 |
COL18A1 |
Knobloch syndrome, type 1 |
COL3A1 |
Ehlers-Danlos syndrome, vascular type;Polymicrogyria with or without vascular-type EDS |
COPB1 |
Microcephaly 19, primary |
C5orf42 |
Orofaciodigital syndrome VI; Joubert syndrome 17 |
CREBBP |
Rubinstein-Taybi syndrome 1 |
CSPP1 |
Joubert syndrome 21 |
CTNNA2 |
Cortical dysplasia, complex, with other brain malformations 9 |
CUL4B |
Mental retardation, X-linked, syndromic 15 (Cabezas type) |
DAG1 |
Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies), type A, 9;Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies), type A, 9 |
DCX |
Lissencephaly, X-linked |
DDX3X |
Intellectual developmental disorder, syndrome, Snijders Blok type |
DHCR7 |
Smith-Lemli-Opitz syndrome |
DHCR24 |
Desmosterolosis |
DISP1 |
Chromosome 1q41-q42 deletion syndrome (Holoprosencephaly 10) |
DLAT |
Pyruvate dehydrogenase E2 deficiency |
DLD |
Dihydrolipoamide dehydrogenase deficiency |
DLL1 |
Neurodevelopmental disorder with nonspecific brain abnormalitiesand with or without seizures |
DNA2 |
Seckel syndrome 8; Progressive external ophthalmoplegiawith mitochondrial DNA deletions, autosomal dominant 6 |
DYNC1H1 |
Mental retardation, autosomal dominant 13;Charcot-Marie-Tooth disease, axonal, type 20;Spinal muscular atrophy, lower extremity-predominant 1, AD |
DYRK1A |
Mental retardation, 7 |
EML1 |
Band heterotopia |
EOMES |
Bilateral perisylvian or diffuse polymicrogyria (brain finding) |
EP300 |
Rubinstein-Taybi syndrome 2; Menke-Hennekam syndrome 2 |
ERCC6 |
Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome, type B;De Sanctis-Cacchione syndrome |
ETFA |
Glutaric acidemia IIA |
EFTUD2 |
Mandibulofacial dysostosis, Guion-Almeida type |
ERMARD |
Periventricular nodular heterotopia 6 |
ETFB |
Glutaric acidemia IIB |
ETFDH |
Glutaric acidemia IIC |
EXOSC3 |
Pontocerebellar hypoplasia, type 1B |
EXOSC8 |
Pontocerebellar hypoplasia, type 1C |
EZH2 |
Weaver syndrome |
FAT4 |
Van Maldergem syndrome 2;Hennekam lymphangiectasia-lymphedema syndrome 2 |
FBXO11 |
Intellectual developmental disorder with dysmorphic facies andbehavioral abnormalities |
FGF8 |
Hypogonadotropic hypogonadism 6 with or without anosmia |
FGFR1 |
Hartsfield syndrome; Trigonocephaly 1;Hypogonadotropic hypogonadism 2 with or without anosmia |
FIG4 |
Charcot-Marie-Tooth disease, type 4J;Amyotrophic lateral sclerosis 11; Yunis-Varon syndrome;Polymicrogyria, bilateral temporooccipital |
FKRP |
Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies), type A, 5;Muscular dystrophy-dystroglycanopathy(congenital with or without mental retardation), type B, 5;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 |
FKTN |
Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy(congenital without mental retardation), type B, 4;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4;Cardiomyopathy, dilated, 1X |
FLNA |
FG syndrome 2; Cardiac valvular dysplasia, X-linked;Congenital short bowel syndrome; Frontometaphyseal dysplasia 1;Heterotopia, periventricular; Melnick-Needles syndrome;Otopalatodigital syndrome, type I;Otopalatodigital syndrome, type II;Terminal osseous dysplasia |
FOXP2 |
Speech-language disorder-1 |
GCDH |
Glutaricaciduria, type I |
GCSH |
Glycine encephalopathy |
GLDC |
Glycine encephalopathy |
GMNN |
Meier-Gorlin syndrome 6 |
GMPPB |
Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies), type A, 14;Muscular dystrophy-dystroglycanopathy(congenital with mental retardation), type B, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 |
GPSM2 |
Chudley-McCullough syndrome |
GRIN1 |
Neurodevelopmental disorderwith or without hyperkinetic movements and seizures;Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
GRIN2B |
Epileptic encephalopathy, early infantile, 27;Mental retardation, autosomal dominant 6 |
GSX2 |
Diencephalic-mesencephalic junction dysplasia syndrome 2 |
HDAC8 |
Cornelia de Lange syndrome 5 |
IER3IP1 |
Microcephaly, epilepsy, and diabetes syndrome |
IFT172 |
Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71 |
INPP5E |
Mental retardation, truncal obesity, retinal dystrophy, and micropenis;Joubert syndrome 1 |
ISPD |
Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies), type A, 7;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 |
KIF11 |
Microcephaly with or without chorioretinopathy,lymphedema, or mental retardation |
KIF14 |
Microcephaly 20, primary |
KIF7 |
Joubert syndrome 12; Hydrolethalus syndrome 2;Al-Gazali-Bakalinova syndrome |
KIF2A |
Cortical dysplasia, complex, with other brain malformations 3 |
KIFBP |
Goldberg-Shprintzen megacolon syndrome |
KIF1BP |
Goldberg-Shprintzen megacolon syndrome |
KIF5C |
Cortical dysplasia, complex, with other brain malformations 2 |
KMT2A |
Wiedemann-Steiner syndrome |
KMT2D |
Kabuki syndrome 1 |
KNL1 |
Microcephaly 4, primary, autosomal recessive |
LAGE3 |
Galloway-Mowat syndrome 2 |
LAMA2 |
Muscular dystrophy, congenital merosin-deficient |
LAMB1 |
Lissencephaly 5 |
LAMC3 |
Cortical malformations, occipital |
LARGE1 |
Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies), type A, 6;Muscular dystrophy-dystroglycanopathy(congenital with mental retardation), type B, 6 |
LGI1 |
Epilepsy, familial temporal lobe, 1 |
MCM5 |
Meier-Gorlin syndrome 8 |
MCPH1 |
Microcephaly 1, primary, autosomal recessive |
MECP2 |
Encephalopathy, neonatal severe;Mental retardation, X-linked syndromic, Lubs type;Mental retardation, X-linked, syndromic 13; Rett syndrome |
MFSD2A |
Neurodevelopmental disorder with progressive microcephaly,spasticity, and brain imaging abnormalities |
MKS1 |
Meckel syndrome 1; Joubert syndrome 28; Bardet-Biedl syndrome 13 |
MTOR |
Smith-Kingsmore syndrome |
NACC1 |
Neurodevelopmental disorder with epilepsy, cataracts,feeding difficulties, and delayed brain myelination |
NBN |
Nijmegen breakage syndrome; Aplastic anemia;Leukemia, acute lymphoblastic |
NCAPD2 |
Microcephaly 21, primary |
NCAPD3 |
Microcephaly 22, primary |
NCAPH |
Microcephaly 23, primary |
NDE1 |
Lissencephaly 4 (with microcephaly); Microhydranencephaly |
NEDD4L |
Periventricular nodular heterotopia 7 |
NHEJ1 |
Severe combined immunodeficiency with microcephaly,growth retardation, and sensitivity to ionizing radiation |
NIN |
Seckel syndrome 7 |
NPHP1 |
Joubert syndrome 4; Nephronophthisis 1, juvenile;Senior-Loken syndrome-1 |
NSMCE2 |
Seckel syndrome 10 |
NUP107 |
Galloway-Mowat syndrome 7 |
NUP133 |
Galloway-Mowat syndrome 8 |
NUP37 |
Microcephaly 24, primary |
OCLN |
Pseudo-TORCH syndrome 1 |
OFD1 |
Joubert syndrome 10; Orofaciodigital syndrome I;Simpson-Golabi-Behmel syndrome, type 2; Retinitis pigmentosa 23 |
OPHN1 |
Mental retardation, X-linked, with cerebellar hypoplasia anddistinctive facial appearance |
ORC1 |
Meier-Gorlin syndrome 1 |
ORC4 |
Meier-Gorlin syndrome 2 |
ORC6 |
Meier-Gorlin syndrome 3 |
OSGEP |
Galloway-Mowat syndrome 3 |
PAFAH1B1 |
Lissencephaly 1 |
PCDH12 |
Diencephalic-mesencephalic junction dysplasia syndrome 1 |
PCNT |
Microcephalic osteodysplastic primordial dwarfism, type II |
PDE6D |
Joubert syndrome 22 |
PDHA1 |
Pyruvate dehydrogenase E1-alpha deficiency |
PDHB |
Pyruvate dehydrogenase E1-beta deficiency |
PDHX |
Lacticacidemia due to PDX1 deficiency |
PDP1 |
Pyruvate dehydrogenase phosphatase deficiency |
PEX1 |
Heimler syndrome 1; Peroxisome biogenesis disorder 1A(Zellweger); Peroxisome biogenesis disorder 1B (NALD/IRD) |
PEX2 |
Peroxisome biogenesis disorder 5A (Zellweger);Peroxisome biogenesis disorder 5B |
PEX3 |
Peroxisome biogenesis disorder 10A (Zellweger);Peroxisome biogenesis disorder 10B |
PEX5 |
Peroxisome biogenesis disorder 2A (Zellweger);Peroxisome biogenesis disorder 2B;Rhizomelic chondrodysplasia punctata, type 5 |
PEX6 |
Heimler syndrome 2; Peroxisome biogenesis disorder 4A(Zellweger); Peroxisome biogenesis disorder 4B |
PEX10 |
Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B |
PEX11B |
Peroxisome biogenesis disorder 14B |
PEX12 |
Peroxisome biogenesis disorder 3A (Zellweger);Peroxisome biogenesis disorder 3B |
PEX13 |
Peroxisome biogenesis disorder 11A (Zellweger);Peroxisome biogenesis disorder 11B |
PEX14 |
Peroxisome biogenesis disorder 13A (Zellweger) |
PEX16 |
Peroxisome biogenesis disorder 8A (Zellweger);Peroxisome biogenesis disorder 8B |
PEX19 |
Peroxisome biogenesis disorder 12A (Zellweger) |
PEX26 |
Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B |
PHC1 |
Microcephaly 11, primary |
PHGDH |
Neu-Laxova syndrome 1; Phosphoglycerate dehydrogenase deficiency |
PIK3CA |
Cowden syndrome 5 |
PIEZO2 |
Marden-Walker syndrome; Arthrogryposis, distal, type 3;Arthrogryposis, distal, type 5;Arthrogryposis, distal, with impaired proprioception and touch |
PI4KA |
Polymicrogyria, perisylvian,with cerebellar hypoplasia and arthrogryposis |
PIK3R2 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalussyndrome 1 |
PLK4 |
Microcephaly and chorioretinopathy, 2 |
PMM2 |
Congenital disorder of glycosylation, type Ia |
PNKP |
Ataxia-oculomotor apraxia 4;Microcephaly, seizures, and developmental delay |
POC1B |
Cone-rod dystrophy 20 |
POMGNT1 |
Muscular dystrophy-dystroglycanopathy, type A, 3;Muscular dystrophy-dystroglycanopathy, type B, 3;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 |
POMGNT2 |
Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies, type A, 8 |
POMK |
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12;Muscular dystrophy-dystroglycanopathy, type A, 12 |
POMT1 |
Muscular dystrophy-dystroglycanopathy, type A, 1;Muscular dystrophy-dystroglycanopathy, type B, 1;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 |
POMT2 |
Muscular dystrophy-dystroglycanopathy, type A, 2;Muscular dystrophy-dystroglycanopathy, type B, 2;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 |
PPP1R12A |
Genitourinary and/or/brain malformation syndrome |
PQBP1 |
Renpenning syndrome |
PSAT1 |
Phosphoserine aminotransferase deficiency; Neu-Laxova syndrome 2 |
PSPH |
Phosphoserine phosphatase deficiency |
PTEN |
Cowden syndrome 1; Lhermitte-Duclos syndrome;Macrocephaly/autism syndrome |
RAB18 |
Warburg micro syndrome 3 |
RAB3GAP1 |
Warburg micro syndrome 1 |
RAB3GAP2 |
Martsolf syndrome; Warburg micro syndrome 2 |
RAD21 |
Mungan syndrome; Cornelia de Lange syndrome 4 |
RARS2 |
Pontocerebellar hypoplasia, type 6 |
RBBP8 |
Jawad syndrome; Seckel syndrome 2 |
RELN |
Lissencephaly 2 (Norman-Roberts type), |
RPGRIP1L |
COACH syndrome; Joubert syndrome 7; Meckel syndrome 5 |
RTTN |
Microcephaly, short stature, and polymicrogyria with seizures |
RXYLT1 |
Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies), type A, 10 |
SASS6 |
Microcephaly 14, primary |
SEC23B |
Cowden syndrome 7 |
SEPSECS |
Pontocerebellar hypoplasia type 2D |
SHH |
Holoprosencephaly 3; Microphthalmia with coloboma 5;Schizencephaly; Single median maxillary central incisor |
SIX3 |
Holoprosencephaly 2; Schizencephaly |
SLC12A6 |
Agenesis of the corpus callosum with peripheral neuropathy |
SLC25A19 |
Microcephaly, Amish type;Thiamine metabolism dysfunction syndrome 4 |
SLC25A46 |
Neuropathy, hereditary motor and sensory, type VIB |
SLC9A6 |
Mental retardation, X-linked syndromic, Christianson type |
SMC1A |
Cornelia de Lange syndrome 2;Epileptic encephalopathy, early infantile, 85, with or without midline brain defects |
SMC3 |
Cornelia de Lange syndrome 3 |
SNAP29 |
Cerebral dysgenesis, neuropathy, ichthyosis,and palmoplantar keratoderma syndrome |
SRD5A3 |
Congenital disorder of glycosylation, type Iq; Kahrizi syndrome |
SRPX2 |
Rolandic epilepsy, mental retardation, and speech dyspraxia |
STAG2 |
Holoprosencephaly 13; Mullegama-Klein-Martinez syndrome |
STAMBP |
Microcephaly-capillary malformation syndrome |
STIL |
Microcephaly 7, primary, autosomal recessive |
TBC1D20 |
Warburg micro syndrome 4 |
TCF4 |
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 |
TCTN1 |
Joubert syndrome 13 |
TCTN2 |
Joubert syndrome 24; Meckel syndrome 8 |
TCTN3 |
Joubert syndrome 18; Orofaciodigital syndrome IV |
TGIF1 |
Holoprosencephaly 4 |
TMEM231 |
Joubert syndrome 20; Meckel syndrome 11 |
TMEM237 |
Joubert syndrome 14 |
TMEM216 |
Joubert syndrome 2; Meckel syndrome 2 |
TMEM138 |
Joubert syndrome 16 |
TMEM67 |
Joubert syndrome 6; Meckel syndrome 3; COACH syndrome;Nephronophthisis 11 |
TMEM5 |
Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies), type A, 10 |
TP53RK |
Galloway-Mowat syndrome 4 |
TPRKB |
Galloway-Mowat syndrome 5 |
TRAIP |
Seckel syndrome 9 |
TSEN2 |
Pontocerebellar hypoplasia type 2B |
TSEN34 |
Pontocerebellar hypoplasia type 2C |
TSEN54 |
Pontocerebellar hypoplasia type 5;Pontocerebellar hypoplasia type 2A;Pontocerebellar hypoplasia type 4 |
TTC21B |
Nephronophthisis 12;Short-rib thoracic dysplasia 4 with or without polydactyly |
TUBA1A |
Lissencephaly 3 |
TUBA8 |
Cortical dysplasia, complex, with other brain malformations 8 |
TUBB |
Cortical dysplasia, complex, with other brain malformations 6;Symmetric circumferential skin creases, congenital, 1 |
TUBB2A |
Cortical dysplasia, complex, with other brain malformations 5 |
TUBB2B |
Cortical dysplasia, complex, with other brain malformations 7 |
TUBB3 |
Cortical dysplasia, complex, with other brain malformations 1;Fibrosis of extraocular muscles, congenital, 3A |
TUBB4A |
Dystonia 4, torsion, autosomal dominant |
TUBG1 |
Cortical dysplasia, complex, with other brain malformations 4 |
TUBGCP4 |
Microcephaly and chorioretinopathy, autosomal recessive, 3 |
TUBGCP6 |
Microcephaly and chorioretinopathy, autosomal recessive, 1 |
VLDLR |
Cerebellar hypoplasia and mental retardationwith or without quadrupedal locomotion 1 |
VRK1 |
Pontocerebellar hypoplasia type 1A |
WASHC5 |
Ritscher-Schinzel syndrome 1;Spastic paraplegia 8, autosomal dominant |
WDFY3 |
Microcephaly 18, primary; Galloway-Mowat syndrome 6 |
WDR4 |
alloway-Mowat syndrome 6 |
WDR62 |
Microcephaly 2, primary, autosomal recessive,with or without cortical malformations |
WDR73 |
Galloway-Mowat syndrome 1(spinocerebellar ataxia, autosomal recessive 5) |
ZEB2 |
Mowat-Wilson syndrome |
ZIC2 |
Holoprosencephaly 5 |
ZNF335 |
Microcephaly 10, primary |
ZNF423 |
Joubert syndrome 19 |