Intellectual disability/Epilepsy (859 genes) - ULG
Full name: |
Intellectual disability/Epilepsy (859 genes) - ULG
|
Description: |
https://www.chuliege.be/upload/docs/application/pdf/2022-08/annexe_6_hmg.neuro_twist.ana_panel_div5_metrics.pdf
|
Type of panel: | |
Provider: |
Twist Biosciences
|
Version number: |
V5
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Laboratory: | |
Created: |
12 Jul 2019 - 11:13
|
Changed: |
05 Apr 2024 - 11:01
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
A2ML1 | 99.35 | 0 | Vissers et al., EJHG 2015 : Noonan syndrome |
ABCC9 | 99.41 | 0 | Hypertrichotic osteochondrodysplasia |
ABCD1 | 99.49 | 0 | Adrenoleukodystrophy |
ABHD5 | 98.48 | 0 | Chanarin-Dorfman syndrome |
ACAD9 | 99.57 | 0 | Mitochondrial complex I deficiency due to ACAD9 deficiency |
ACO2 | 99.66 | 0 | Infantile cerebellar-retinal degeneration |
ACOX1 | 99.49 | 0 | Peroxisomal acyl-CoA oxidase deficiency |
ACSL4 | 91.09 | 0 | Mental retardation, X-linked 63 |
ACTB | 99.34 | 0 | Baraitser-Winter syndrome 1 |
ACTG1 | 99.69 | 0 | Baraitser-Winter syndrome 2 |
ACY1 | 99.67 | 0 | Aminoacylase 1 deficiency |
ADAR | 99.45 | 0 | Aicardi-Goutieres syndrome 6 |
ADAT3 | 81.40 | 0 | Mental retardation, autosomal recessive 36 |
ADGRG1 | 99.67 | 0 | Polymicrogyria, bilateral frontoparietal |
ADK | 98.74 | 0 | Hypermethioninemia due to adenosine kinase deficiency |
ADNP | 99.55 | 0 | Helsmoortel-van der Aa syndrome |
ADSL | 99.58 | 0 | Adenylosuccinase deficiency |
AFF2 | 90.80 | 0 | Mental retardation, X-linked, FRAXE type |
AFG2A | 98.88 | 0 | Epilepsy, hearing loss, and mental retardation syndrome |
AGA | 99.60 | 0 | Aspartylglucosaminuria |
AGPAT2 | 91.26 | 0 | Lipodystrophy, congenital generalized, type 1 |
AHCY | 99.67 | 0 | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
AHDC1 | 99.68 | 0 | Xia-Gibbs syndrome |
AHI1 | 99.05 | 0 | Joubert syndrome 3 |
AIMP1 | 96.88 | 0 | Leukodystrophy, hypomyelinating, 3 |
AKT3 | 98.82 | 0 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ALDH18A1 | 99.66 | 0 | Cutis laxa, autosomal recessive, type IIIA |
ALDH3A2 | 99.31 | 0 | Sjogren-Larsson syndrome |
ALDH4A1 | 96.44 | 0 | Hyperprolinemia, type II |
ALDH5A1 | 93.04 | 0 | Succinic semialdehyde dehydrogenase deficiency |
ALDH7A1 | 99.00 | 0 | Epilepsy, pyridoxine-dependent |
ALG1 | 99.43 | 0 | Congenital disorder of glycosylation, type Ik |
ALG11 | 99.57 | 0 | Congenital disorder of glycosylation, type Ip |
ALG12 | 99.69 | 0 | Congenital disorder of glycosylation, type Ig |
ALG13 | 92.88 | 0 | Epileptic encephalopathy, early infantile, 36 |
ALG2 | 97.14 | 0 | Myasthenic syndrome, congenital, 14, with tubular aggregates |
ALG3 | 99.59 | 0 | Congenital disorder of glycosylation, type Id |
ALG6 | 98.36 | 0 | Congenital disorder of glycosylation, type Ic |
ALG9 | 96.33 | 0 | Gillessen-Kaesbach-Nishimura syndrome |
ALMS1 | 98.27 | 0 | Alstrom syndrome |
ALX1 | 99.52 | 0 | Frontonasal dysplasia 3 |
ALX4 | 99.07 | 0 | Frontonasal dysplasia 2 |
AMER1 | 99.96 | 0 | Osteopathia striata with cranial sclerosis |
AMPD2 | 99.69 | 0 | Pontocerebellar hypoplasia, type 9 |
AMT | 99.69 | 0 | Glycine encephalopathy |
ANK3 | 99.47 | 0 | Mental retardation, autosomal recessive, 37 |
ANKH | 99.64 | 0 | Craniometaphyseal dysplasia |
ANKRD11 | 99.68 | 0 | KBG syndrome |
AP1S1 | 99.50 | 0 | MEDNIK syndrome |
AP1S2 | 88.78 | 0 | Mental retardation, X-linked syndromic 5 |
AP4B1 | 99.61 | 0 | Spastic paraplegia 47, autosomal recessive |
AP4M1 | 99.68 | 0 | Spastic paraplegia 50, autosomal recessive |
AP4S1 | 99.48 | 0 | Spastic paraplegia 52, autosomal recessive |
APTX | 99.02 | 0 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
ARCN1 | 99.27 | 0 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay |
ARFGEF2 | 99.31 | 0 | Periventricular heterotopia with microcephaly |
ARG1 | 99.53 | 0 | Argininemia |
ARHGAP31 | 99.60 | 0 | Adams-Oliver syndrome 1 |
ARHGEF2 | 99.64 | 0 | Neurodevelopmental disorder with midbrain and hindbrain malformations |
ARHGEF9 | 97.26 | 0 | Epileptic encephalopathy, early infantile, 8 |
ARID1A | 97.02 | 0 | Coffin-Siris syndrome 2 |
ARID1B | 97.57 | 0 | Coffin-Siris syndrome 1 |
ARID2 | 99.33 | 0 | Coffis-Siris syndrome 6 |
ARL13B | 98.36 | 0 | Joubert syndrome 8 |
ARL6 | 99.09 | 0 | Bardet-Biedl syndrome 3 |
ARSL | 90.38 | 0 | Chondrodysplasia punctata, X-linked recessive |
ARX | 65.25 | 0 | Mental retardation, X-linked 29 and others |
ASH1L | 99.53 | 0 | Okamoto et al., AJMG 2017 : MCA/ID syndrome |
ASNS | 99.42 | 0 | Asparagine synthetase deficiency |
ASPA | 99.17 | 0 | Canavan disease |
ASPM | 98.50 | 0 | Microcephaly 5, primary, autosomal recessive |
ASXL1 | 95.03 | 0 | Bohring-Opitz syndrome |
ASXL3 | 98.20 | 0 | Bainbridge-Ropers syndrome |
ATIC | 96.73 | 0 | AICA-ribosiduria due to ATIC deficiency |
ATP6V0A2 | 99.12 | 0 | Cutis laxa, autosomal recessive, type IIA |
ATP7A | 94.32 | 0 | Menkes disease |
ATR | 99.17 | 0 | Seckel syndrome 1 |
ATRIP | 95.19 | 0 | Ogi et al., PLoS Genet 2012 : Seckel syndrome |
ATRX | 92.10 | 0 | Mental retardation-hypotonic facies syndrome, X-linked |
AUH | 96.75 | 0 | 3-methylglutaconic aciduria, type I |
AUTS2 | 97.55 | 0 | Mental retardation, autosomal dominant 26 |
B3GLCT | 92.21 | 0 | Peters-plus syndrome |
B4GALT1 | 98.41 | 0 | Congenital disorder of glycosylation, type IId |
B4GALT7 | 83.36 | 0 | Ehlers-Danlos syndrome with short stature and limb anomalies |
BBIP1 | 99.64 | 0 | Bardet-Biedl syndrome 18 |
BBS1 | 99.66 | 0 | Bardet-Biedl syndrome 1 |
BBS10 | 99.57 | 0 | Bardet-Biedl syndrome 10 |
BBS12 | 99.52 | 0 | Bardet-Biedl syndrome 12 |
BBS2 | 99.32 | 0 | Bardet-Biedl syndrome 2 |
BBS4 | 99.49 | 0 | Bardet-Biedl syndrome 4 |
BBS5 | 98.49 | 0 | Bardet-Biedl syndrome 5 |
BBS7 | 99.00 | 0 | Bardet-Biedl syndrome 7 |
BBS9 | 98.68 | 0 | Bardet-Biedl syndrome 9 |
BCKDHB | 98.82 | 0 | Maple syrup urine disease, type Ib |
BCL11A | 99.16 | 0 | Dias-Logan syndrome |
BCOR | 96.85 | 0 | Microphthalmia, syndromic 2 |
BCS1L | 99.69 | 0 | Leigh syndrome |
BLM | 99.07 | 0 | Bloom syndrome |
BRAF | 94.78 | 0 | Noonan syndrome 7 |
BRPF1 | 99.67 | 0 | Intellectual developmental disorder with dysmorphic facies and ptosis |
BRWD3 | 93.74 | 0 | Mental retardation, X-linked 93 |
BSCL2 | 99.67 | 0 | Encephalopathy, progressive, with or without lipodystrophy |
BTD | 99.68 | 0 | Biotinidase deficiency |
BUB1B | 99.40 | 0 | Mosaic variegated aneuploidy syndrome 1 |
C12ORF57 | 99.69 | 0 | Platzer et al., AJMG 2014 : RM, hypoplasie corps caleux, colobome, épilepsie. |
C19ORF12 | 99.69 | 0 | Neurodegeneration with brain iron accumulation 4 |
C2CD3 | 99.44 | 0 | Orofaciodigital syndrome XIV |
CA8 | 99.19 | 0 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 |
CACNA1A | 99.12 | 0 | Epileptic encephalopathy, early infantile, 42 |
CACNA1C | 99.65 | 0 | Timothy syndrome |
CACNA1D | 99.50 | 0 | Primary aldosteronism, seizures, and neurologic abnormalities |
CAMK2A | 99.67 | 0 | Mental retardation, autosomal dominant 53 |
CAMK2B | 96.34 | 0 | Mental retardation, autosomal dominant 54 |
CANT1 | 99.60 | 0 | Desbuquois dysplasia 1 |
CASK | 95.36 | 0 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
CAV1 | 99.67 | 0 | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome |
CAVIN1 | 99.31 | 0 | Lipodystrophy, congenital generalized, type 4 |
CBL | 99.54 | 0 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia |
CBS | 99.69 | 0 | Homocystinuria, B6-responsive and nonresponsive types |
CC2D1A | 99.64 | 0 | Mental retardation, autosomal recessive 3 |
CC2D2A | 99.11 | 0 | Joubert syndrome 9 |
CCDC22 | 99.91 | 0 | Ritscher-Schinzel syndrome 2 |
CCDC39 | 98.07 | 0 | Ciliary dyskinesia, primary, 14 |
CCDC78 | 99.69 | 0 | Myopathy, centronuclear, 4 |
CCDC88C | 99.38 | 0 | Hydrocephalus, nonsyndromic, autosomal recessive |
CD96 | 99.13 | 0 | C syndrome |
CDC45 | 99.57 | 0 | Meier-Gorlin syndrome 7 |
CDC6 | 99.32 | 0 | Meier-Gorlin syndrome 5 |
CDH15 | 96.19 | 0 | Mental retardation, autosomal dominant 3 |
CDK13 | 95.39 | 0 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
CDK5RAP2 | 99.45 | 0 | Microcephaly 3, primary, autosomal recessive |
CDKL5 | 87.62 | 0 | Epileptic encephalopathy, early infantile, 2 |
CDON | 98.90 | 0 | Holoprosencephaly 11 |
CDT1 | 89.72 | 0 | Meier-Gorlin syndrome 4 |
CENPJ | 99.19 | 0 | Microcephaly 6, primary, autosomal recessive |
CEP135 | 97.81 | 0 | Microcephaly 8, primary, autosomal recessive |
CEP152 | 98.40 | 0 | Microcephaly 9, primary, autosomal recessive |
CEP290 | 97.64 | 0 | Joubert syndrome 5 |
CEP41 | 99.07 | 0 | Joubert syndrome 15 |
CEP57 | 99.09 | 0 | Mosaic variegated aneuploidy syndrome 2 |
CEP63 | 99.06 | 0 | Seckel syndrome 6 |
CERT1 | 99.15 | 0 | Mental retardation, autosomal dominant 34 |
CHAMP1 | 99.63 | 0 | Mental retardation, autosomal dominant 40 |
CHAT | 97.70 | 0 | Myasthenic syndrome, congenital, 6, presynaptic |
CHD2 | 99.18 | 0 | Epileptic encephalopathy, childhood-onset |
CHD4 | 99.65 | 0 | Sifrim-Hitz-Weiss syndrome |
CHD7 | 99.53 | 0 | CHARGE syndrome |
CHD8 | 99.58 | 0 | Autism, susceptibility to, 18 |
CHKB | 97.97 | 0 | Muscular dystrophy, congenital, megaconial type |
CHMP1A | 99.59 | 0 | Pontocerebellar hypoplasia, type 8 |
CHRNA4 | 90.96 | 0 | Epilepsy, nocturnal frontal lobe, 1 |
CHRND | 99.68 | 0 | Myasthenic syndrome, congenital, 3B, fast-channel |
CISD2 | 98.61 | 0 | Wolfram syndrome 2 |
CLCN4 | 99.27 | 0 | Mental retardation, X-linked 49/15 |
CLN3 | 99.69 | 0 | Ceroid lipofuscinosis, neuronal, 3 |
CLN5 | 97.69 | 0 | Ceroid lipofuscinosis, neuronal, 5 |
CLN6 | 85.06 | 0 | Ceroid lipofuscinosis, neuronal, 6 |
CLN8 | 99.69 | 0 | Ceroid lipofuscinosis, neuronal, 8 |
CLP1 | 99.68 | 0 | Pontocerebellar hypoplasia, type 10 |
CLPB | 99.62 | 0 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia |
CNKSR2 | 91.50 | 0 | Houge et al., Mol Syndromol 2012 : ID |
CNTNAP2 | 99.39 | 0 | Pitt-Hopkins like syndrome 1 |
COASY | 99.68 | 0 | Neurodegeneration with brain iron accumulation 6 |
COG1 | 98.34 | 0 | Congenital disorder of glycosylation, type IIg |
COG5 | 99.11 | 0 | Congenital disorder of glycosylation, type IIi |
COG6 | 98.39 | 0 | Congenital disorder of glycosylation, type IIl |
COG7 | 99.66 | 0 | Congenital disorder of glycosylation, type IIe |
COG8 | 97.38 | 0 | Congenital disorder of glycosylation, type IIh |
COL4A1 | 97.86 | 0 | Porencephaly 1 |
COL4A2 | 99.62 | 0 | Porencephaly 2 |
COLEC10 | 99.16 | 0 | Mental retardation, autosomal dominant 34 |
COLEC11 | 99.67 | 0 | 3MC syndrome 2 |
COQ2 | 94.52 | 0 | Coenzyme Q10 deficiency, primary, 1 |
COQ4 | 98.74 | 0 | Coenzyme Q10 deficiency, primary, 7 |
COQ6 | 99.60 | 0 | Coenzyme Q10 deficiency, primary, 6 |
COQ7 | 99.40 | 0 | Coenzyme Q10 deficiency, primary, 8 |
COQ8A | 99.69 | 0 | Coenzyme Q10 deficiency, primary, 4 |
COQ9 | 98.23 | 0 | Coenzyme Q10 deficiency, primary, 5 |
COX10 | 99.65 | 0 | Leigh syndrome due to mitochondrial COX4 deficiency |
CPLANE1 | 98.89 | 0 | Joubert syndrome 17 |
CRADD | 99.63 | 0 | Mental retardation, autosomal recessive 34, with variant lissencephaly |
CRBN | 98.86 | 0 | Mental retardation, autosomal recessive 2 |
CREBBP | 99.62 | 0 | Rubinstein-Taybi syndrome 1 |
CRPPA | 92.51 | 0 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
CSNK2A1 | 99.32 | 0 | Okur-Chung neurodevelopmental syndrome |
CSPP1 | 98.95 | 0 | Joubert syndrome 21 |
CTC1 | 99.57 | 0 | Cerebroretinal microangiopathy with calcifications and cysts |
CTCF | 99.65 | 0 | Mental retardation, autosomal dominant 21 |
CTNNB1 | 99.65 | 0 | Mental retardation, autosomal dominant 19 |
CTSA | 99.59 | 0 | Galactosialidosis |
CTSD | 94.51 | 0 | Ceroid lipofuscinosis, neuronal, 10 |
CUL4B | 84.65 | 0 | Mental retardation, X-linked, syndromic 15 (Cabezas type) |
CYB5R3 | 88.44 | 0 | Methemoglobinemia, type I |
CYP27A1 | 97.94 | 0 | Cerebrotendinous xanthomatosis |
D2HGDH | 98.50 | 0 | D-2-hydroxyglutaric aciduria |
DAG1 | 99.69 | 0 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 |
DARS2 | 99.20 | 0 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation |
DCAF17 | 93.81 | 0 | Woodhouse-Sakati syndrome |
DCC | 99.55 | 0 | Mirror movements 1 and/or agenesis of the corpus callosum |
DCPS | 99.69 | 0 | Al-Raqad syndrome |
DCX | 96.94 | 0 | Lissencephaly, X-linked |
DDB2 | 99.69 | 0 | Xeroderma pigmentosum, group E, DDB-negative subtype |
DDHD2 | 97.74 | 0 | Spastic paraplegia 54, autosomal recessive |
DDX11 | 99.66 | 0 | Warsaw breakage syndrome |
DDX3X | 96.52 | 0 | Mental retardation, X-linked 102 |
DEAF1 | 92.63 | 0 | Mental retardation, autosomal dominant 24 |
DHCR24 | 99.34 | 0 | Desmosterolosis |
DHCR7 | 99.68 | 0 | Smith-Lemli-Opitz syndrome |
DHFR | 98.50 | 0 | Megaloblastic anemia due to dihydrofolate reductase deficiency |
DHX30 | 99.51 | 0 | Lessel et al., AJHG 2017 : global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities. |
DIAPH1 | 95.85 | 0 | Seizures, cortical blindness, microcephaly syndrome |
DKC1 | 91.60 | 0 | Dyskeratosis congenita, X-linked |
DLD | 99.08 | 0 | Dihydrolipoamide dehydrogenase deficiency |
DLG3 | 98.91 | 0 | Mental retardation, X-linked 90 |
DLL4 | 99.61 | 0 | Adams-Oliver syndrome 6 |
DNAJC19 | 97.60 | 0 | 3-methylglutaconic aciduria, type V |
DNM1 | 96.84 | 0 | Epileptic encephalopathy, early infantile, 31 |
DNMT3A | 99.69 | 0 | Tatton-Brown-Rahman syndrome |
DNMT3B | 99.69 | 0 | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
DOCK6 | 97.92 | 0 | Adams-Oliver syndrome 2 |
DOCK8 | 99.24 | 0 | Hyper-IgE recurrent infection syndrome, autosomal recessive |
DPAGT1 | 99.68 | 0 | Congenital disorder of glycosylation, type Ij |
DPH1 | 99.67 | 0 | Developmental delay with short stature, dysmorphic features, and sparse hair |
DPM1 | 99.27 | 0 | Congenital disorder of glycosylation, type Ie |
DPP6 | 99.57 | 0 | Mental retardation, autosomal dominant 33 |
DSCAM | 99.29 | 0 | Wang et al., Nat Commun 2016 : Autisme |
DYNC1H1 | 99.50 | 0 | Mental retardation, autosomal dominant 13 |
DYRK1A | 99.53 | 0 | Mental retardation, autosomal dominant 7 |
EARS2 | 99.64 | 0 | Combined oxidative phosphorylation deficiency 12 |
EBF3 | 98.59 | 0 | Hypotonia, ataxia, and delayed development syndrome |
EBP | 99.89 | 0 | MEND syndrome |
ECHS1 | 98.49 | 0 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
EDC3 | 99.68 | 0 | Mental retardation, autosomal recessive 50 |
EEF1A2 | 88.74 | 0 | Mental retardation, autosomal dominant 38 |
EFNB1 | 99.39 | 0 | Craniofrontonasal dysplasia |
EFTUD2 | 99.44 | 0 | Mandibulofacial dysostosis, Guion-Almeida type |
EHMT1 | 95.40 | 0 | Kleefstra syndrome |
EIF2AK3 | 94.12 | 0 | Wolcott-Rallison syndrome |
EIF2S3 | 97.88 | 0 | Mental retardation, X-linked, syndromic, Borck type |
ELOVL4 | 99.45 | 0 | Ichthyosis, spastic quadriplegia, and mental retardation |
ELP2 | 98.99 | 0 | Mental retardation, autosomal recessive 58 |
EML1 | 96.28 | 0 | Band heterotopia |
EMX2 | 99.48 | 0 | Schizencephaly |
ENTPD1 | 99.05 | 0 | Spastic paraplegia 64, autosomal recessive |
EOGT | 99.33 | 0 | Adams-Oliver syndrome 4 |
EP300 | 99.56 | 0 | Rubinstein-Taybi syndrome 2 |
EPB41L1 | 99.69 | 0 | Mental retardation, autosomal dominant 11 |
EPG5 | 99.47 | 0 | Vici syndrome |
ERCC2 | 99.67 | 0 | Cerebrooculofacioskeletal syndrome 2 |
ERCC3 | 99.68 | 0 | Xeroderma pigmentosum, group B |
ERCC4 | 99.35 | 0 | Xeroderma pigmentosum, type F/Cockayne syndrome |
ERCC5 | 99.48 | 0 | Xeroderma pigmentosum, group G/Cockayne syndrome |
ERCC6 | 99.07 | 0 | Cerebrooculofacioskeletal syndrome 1 |
ERCC8 | 99.27 | 0 | Cockayne syndrome, type A |
ERLIN2 | 99.32 | 0 | Spastic paraplegia 18, autosomal recessive |
ESCO2 | 98.50 | 0 | Roberts syndrome |
ETHE1 | 99.60 | 0 | Ethylmalonic encephalopathy |
EXOSC3 | 99.53 | 0 | Pontocerebellar hypoplasia, type 1B |
EZH2 | 99.41 | 0 | Weaver syndrome |
EZR | 99.63 | 0 | Riecken et al., Hum Mut 2015 : ID |
FARS2 | 99.56 | 0 | Combined oxidative phosphorylation deficiency 14 |
FAT4 | 99.39 | 0 | Van Maldergem syndrome 2 |
FBXL4 | 99.46 | 0 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) |
FBXO31 | 93.34 | 0 | Mental retardation, autosomal recessive 45 |
FGD1 | 98.23 | 0 | Mental retardation, X-linked syndromic 16 |
FGFR1 | 99.69 | 0 | Hypogonadotropic hypogonadism 2 with or without anosmia |
FGFR2 | 99.67 | 0 | Saethre-Chotzen syndrome |
FGFR3 | 95.86 | 0 | Crouzon syndrome with acanthosis nigricans |
FH | 99.29 | 0 | Fumarase deficiency |
FKRP | 85.03 | 0 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 |
FKTN | 99.13 | 0 | Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 |
FLNA | 99.73 | 0 | Heterotopia, periventricular |
FMN2 | 99.05 | 0 | Mental retardation, autosomal recessive 47 |
FMR1 | 94.48 | 0 | Fragile X tremor/ataxia syndrome |
FOLR1 | 99.69 | 0 | Neurodegeneration due to cerebral folate transport deficiency |
FOXG1 | 84.20 | 0 | Rett syndrome, congenital variant |
FOXP1 | 99.55 | 0 | Mental retardation with language impairment and with or without autistic features |
FOXP2 | 99.34 | 0 | Speech-language disorder-1 |
FOXRED1 | 99.63 | 0 | Leigh syndrome due to mitochondrial complex I deficiency |
FRAS1 | 99.57 | 0 | Fraser syndrome 1 |
FREM2 | 99.23 | 0 | Fraser syndrome 2 |
FRMPD4 | 96.56 | 0 | Mental retardation, X-linked 104 |
FTCD | 95.82 | 0 | Glutamate formiminotransferase deficiency |
FTL | 99.55 | 0 | Neurodegeneration with brain iron accumulation 3 |
FTO | 99.47 | 0 | Growth retardation, developmental delay, facial dysmorphism |
FTSJ1 | 99.69 | 0 | Mental retardation, X-linked 9/44 |
FUCA1 | 98.18 | 0 | Fucosidosis |
GABRA3 | 87.08 | 0 | Niturad et al., Brain 2017 : range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus. |
GABRB3 | 94.66 | 0 | Epileptic encephalopathy, early infantile, 43 |
GABRG2 | 99.57 | 0 | Epilepsy, generalized, with febrile seizures plus, type 3 |
GALT | 99.68 | 0 | Galactosemia |
GAMT | 93.42 | 0 | Cerebral creatine deficiency syndrome 2 |
GAN | 98.90 | 0 | Giant axonal neuropathy-1 |
GATAD2B | 99.69 | 0 | Mental retardation, autosomal dominant 18 |
GATM | 94.01 | 0 | Cerebral creatine deficiency syndrome 3 |
GBE1 | 98.82 | 0 | Glycogen storage disease IV |
GCH1 | 93.92 | 0 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia |
GCSH | 86.02 | 0 | Glycine encephalopathy |
GDI1 | 95.21 | 0 | Mental retardation, X-linked 41 |
GFAP | 99.69 | 0 | Alexander disease |
GJC2 | 73.70 | 0 | Leukodystrophy, hypomyelinating, 2 |
GLB1 | 99.56 | 0 | GM1-gangliosidosis, type I |
GLDC | 97.83 | 0 | Glycine encephalopathy |
GLI2 | 98.60 | 0 | Holoprosencephaly 9 |
GLI3 | 99.55 | 0 | Greig cephalopolysyndactyly syndrome |
GLUL | 99.68 | 0 | Glutamine deficiency, congenital |
GLYCTK | 99.69 | 0 | D-glyceric aciduria |
GM2A | 99.68 | 0 | GM2-gangliosidosis, AB variant |
GMPPA | 99.69 | 0 | Alacrima, achalasia, and mental retardation syndrome |
GMPPB | 99.64 | 0 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 |
GNAI3 | 99.08 | 0 | Auriculocondylar syndrome 1 |
GNAO1 | 99.66 | 0 | Epileptic encephalopathy, early infantile, 17 |
GNAS | 97.96 | 0 | Pseudohypoparathyroidism Ia |
GNPAT | 97.06 | 0 | Rhizomelic chondrodysplasia punctata, type 2 |
GNPTAB | 99.49 | 0 | Mucolipidosis II alpha/beta |
GNPTG | 90.19 | 0 | Mucolipidosis III gamma |
GNS | 99.55 | 0 | Mucopolysaccharidosis type IIID |
GPC3 | 91.66 | 0 | Simpson-Golabi-Behmel syndrome, type 1 |
GPHN | 99.58 | 0 | Molybdenum cofactor deficiency C |
GPSM2 | 99.10 | 0 | Chudley-McCullough syndrome |
GPT2 | 95.20 | 0 | Mental retardation, autosomal recessive 49 |
GRIA3 | 89.99 | 0 | Mental retardation, X-linked 94 |
GRID2 | 99.47 | 0 | Spinocerebellar ataxia, autosomal recessive 18 |
GRIK2 | 99.13 | 0 | Mental retardation, autosomal recessive, 6 |
GRIN1 | 99.54 | 0 | Mental retardation, autosomal dominant 8 |
GRIN2A | 99.68 | 0 | Epilepsy, focal, with speech disorder and with or without mental retardation |
GRIN2B | 99.66 | 0 | Mental retardation, autosomal dominant 6 |
GRIP1 | 99.65 | 0 | Fraser syndrome 3 |
GRM1 | 99.46 | 0 | Spinocerebellar ataxia 44 |
GSS | 99.59 | 0 | Glutathione synthetase deficiency |
GTF2E2 | 98.86 | 0 | Trichothiodystrophy 6, nonphotosensitive |
GTF2H5 | 99.64 | 0 | Trichothiodystrophy 3, photosensitive |
GTPBP3 | 97.37 | 0 | Combined oxidative phosphorylation deficiency 23 |
GUSB | 98.73 | 0 | Mucopolysaccharidosis VII |
HACE1 | 96.37 | 0 | Spastic paraplegia and psychomotor retardation with or without seizures |
HCFC1 | 99.76 | 0 | Spastic paraplegia and psychomotor retardation with or without seizures |
HCN1 | 94.14 | 0 | Epileptic encephalopathy, early infantile, 24 |
HDAC4 | 99.68 | 0 | Fisch et al., AJMG 2016 : ID |
HDAC8 | 99.17 | 0 | Cornelia de Lange syndrome 5 |
HECW2 | 99.50 | 0 | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
HEPACAM | 91.30 | 0 | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation |
HERC1 | 99.49 | 0 | Macrocephaly, dysmorphic facies, and psychomotor retardation |
HERC2 | 99.66 | 0 | Mental retardation, autosomal recessive 38 |
HESX1 | 98.36 | 0 | Growth hormone deficiency with pituitary anomalies |
HEXA | 99.67 | 0 | Tay-Sachs disease |
HEXB | 97.84 | 0 | Sandhoff disease, infantile, juvenile, and adult forms |
HGSNAT | 94.00 | 0 | Mucopolysaccharidosis type IIIC (Sanfilippo C) |
HIVEP2 | 99.60 | 0 | Mental retardation, autosomal dominant 43 |
HLCS | 99.60 | 0 | Holocarboxylase synthetase deficiency |
HNMT | 99.26 | 0 | Mental retardation, autosomal recessive 51 |
HNRNPH2 | 99.85 | 0 | Mental retardation, X-linked, syndromic, Bain type |
HNRNPK | 99.17 | 0 | Au-Kline syndrome |
HNRNPU | 98.33 | 0 | Epileptic encephalopathy, early infantile, 54 |
HOXA1 | 99.65 | 0 | Athabaskan brainstem dysgenesis syndrome |
HPRT1 | 75.78 | 0 | Lesch-Nyhan syndrome |
HRAS | 99.69 | 0 | Costello syndrome |
HSD17B10 | 99.97 | 0 | HSD10 mitochondrial disease |
HSPG2 | 98.62 | 0 | Dyssegmental dysplasia, Silverman-Handmaker type |
HUWE1 | 97.92 | 0 | Mental retardation, X-linked syndromic, Turner type |
HYCC1 | 98.81 | 0 | Leukodystrophy, hypomyelinating, 5 |
IARS1 | 99.32 | 0 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy |
IARS2 | 99.11 | 0 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
IDS | 97.07 | 0 | Mucopolysaccharidosis II |
IDUA | 77.72 | 0 | Mucopolysaccharidosis Ih/s |
IER3IP1 | 98.86 | 0 | Microcephaly, epilepsy, and diabetes syndrome |
IFIH1 | 99.07 | 0 | Aicardi-Goutieres syndrome 7 |
IFT172 | 99.62 | 0 | Short-rib thoracic dysplasia 10 with or without polydactyly |
IFT27 | 99.69 | 0 | Bardet-Biedl syndrome 19 |
IFT57 | 98.66 | 0 | Thevenon et al., Clin Genet 2016 : Oro-facial-digital syndrome |
IGF1 | 99.63 | 0 | Growth retardation with deafness and mental retardation due to IGF1 deficiency |
IL1RAPL1 | 93.86 | 0 | Mental retardation, X-linked 21/34 |
INPP5E | 98.14 | 0 | Joubert syndrome 1 |
INTU | 98.49 | 0 | Bruel et al., JMG 2017 : oro-facial-digital syndrome |
IQSEC2 | 97.05 | 0 | Mental retardation, X-linked 1/78 |
IRX5 | 89.09 | 0 | Hamamy syndrome |
ITGA7 | 99.67 | 0 | Muscular dystrophy, congenital, due to ITGA7 deficiency |
ITPR1 | 99.38 | 0 | Spinocerebellar ataxia 29, congenital nonprogressive |
JAM3 | 99.20 | 0 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts |
KANSL1 | 99.63 | 0 | Koolen-De Vries syndrome |
KAT6A | 99.60 | 0 | Mental retardation, autosomal dominant 32 |
KAT6B | 99.21 | 0 | Genitopatellar syndrome |
KCNC1 | 99.05 | 0 | Epilepsy, progressive myoclonic 7 |
KCNC3 | 76.28 | 0 | Spinocerebellar ataxia 13 |
KCNH1 | 98.56 | 0 | Temple-Baraitser syndrome |
KCNJ10 | 99.68 | 0 | SESAME syndrome |
KCNJ11 | 99.69 | 0 | Diabetes, permanent neonatal, with or without neurologic features |
KCNK9 | 99.67 | 0 | Birk-Barel mental retardation dysmorphism syndrome |
KCNMA1 | 99.54 | 0 | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy |
KCNQ2 | 98.93 | 0 | Epileptic encephalopathy, early infantile, 7 |
KCNQ5 | 96.45 | 0 | Mental retardation, autosomal dominant 46 |
KCNT1 | 98.70 | 0 | Epileptic encephalopathy, early infantile, 14 |
KCTD7 | 95.20 | 0 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions |
KDM1A | 96.83 | 0 | Cleft palate, psychomotor retardation, and distinctive facial features |
KDM5C | 99.87 | 0 | Mental retardation, X-linked, syndromic, Claes-Jensen type |
KDM6A | 94.07 | 0 | Kabuki syndrome 2 |
KIAA0586 | 92.34 | 0 | Joubert syndrome 23 |
KIAA0753 | 99.23 | 0 | Orofaciodigital syndrome XV |
KIF11 | 98.74 | 0 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
KIF1A | 99.66 | 0 | Mental retardation, autosomal dominant 9 |
KIF4A | 99.41 | 0 | Mental retardation, X-linked 100 |
KIF5A | 99.35 | 0 | Myoclonus, intractable, neonatal |
KIF5C | 96.19 | 0 | Cortical dysplasia, complex, with other brain malformations 2 |
KIF7 | 99.42 | 0 | Joubert syndrome 12 |
KIFBP | 96.44 | 0 | Goldberg-Shprintzen megacolon syndrome |
KIRREL3 | 99.66 | 0 | Mental retardation, autosomal dominant 4 |
KLC2 | 99.69 | 0 | Spastic paraplegia, optic atrophy, and neuropathy |
KMT2A | 97.93 | 0 | Wiedemann-Steiner syndrome |
KMT2C | 99.31 | 0 | Kleefstra syndrome 2 |
KMT2D | 99.67 | 0 | Kabuki syndrome 1 |
KMT2E | 98.54 | 0 | Dong et al., Cell Rep 2014 : trouble du spectre autistique |
KMT5B | 99.31 | 0 | Stessman et al., Nat Genet 2017 : autisme et retard développemental |
KNL1 | 92.70 | 0 | Microcephaly 4, primary, autosomal recessive |
KPTN | 99.37 | 0 | Mental retardation, autosomal recessive 41 |
KRAS | 99.32 | 0 | Noonan syndrome 3 |
L1CAM | 99.66 | 0 | CRASH syndrome |
L2HGDH | 98.45 | 0 | L-2-hydroxyglutaric aciduria |
LAMA1 | 99.13 | 0 | Poretti-Boltshauser syndrome |
LAMA2 | 99.46 | 0 | Muscular dystrophy, congenital, due to partial LAMA2 deficiency |
LAMB1 | 99.50 | 0 | Lissencephaly 5 |
LAMC3 | 97.99 | 0 | Cortical malformations, occipital |
LAMP2 | 93.32 | 0 | Danon disease |
LARGE1 | 99.64 | 0 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 |
LARP7 | 97.40 | 0 | Alazami syndrome |
LAS1L | 99.76 | 0 | Wilson-Turner syndrome |
LIAS | 98.94 | 0 | Hyperglycinemia, lactic acidosis, and seizures |
LIG4 | 99.55 | 0 | LIG4 syndrome |
LINS1 | 98.65 | 0 | Mental retardation, autosomal recessive 27 |
LIPT1 | 98.69 | 0 | Lipoyltransferase 1 deficiency |
LMBRD1 | 96.94 | 0 | Methylmalonic aciduria and homocystinuria, cblF type |
LMNA | 99.49 | 0 | Emery-Dreifuss muscular dystrophy 3, AR |
LRP2 | 99.40 | 0 | Donnai-Barrow syndrome |
LZTFL1 | 98.67 | 0 | Bardet-Biedl syndrome 17 |
LZTR1 | 99.56 | 0 | Noonan syndrome 10 |
MAGEL2 | 98.06 | 0 | Schaaf-Yang syndrome |
MAN1B1 | 98.88 | 0 | Mental retardation, autosomal recessive 15 |
MAN2B1 | 99.40 | 0 | Mannosidosis, alpha-, types I and II |
MANBA | 99.01 | 0 | Mannosidosis, beta |
MAOA | 85.51 | 0 | Brunner syndrome |
MAP2K1 | 99.62 | 0 | Cardiofaciocutaneous syndrome 3 |
MAP2K2 | 99.01 | 0 | Cardiofaciocutaneous syndrome 4 |
MASP1 | 99.59 | 0 | 3MC syndrome 1 |
MAT1A | 99.66 | 0 | Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency |
MBD5 | 99.52 | 0 | Mental retardation, autosomal dominant 1 |
MBOAT7 | 99.50 | 0 | Mental retardation, autosomal recessive 57 |
MBTPS2 | 96.46 | 0 | IFAP syndrome with or without BRESHECK syndrome |
MCCC1 | 99.50 | 0 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency |
MCOLN1 | 93.43 | 0 | Mucolipidosis IV |
MCPH1 | 98.40 | 0 | Microcephaly 1, primary, autosomal recessive |
MECP2 | 89.77 | 0 | Rett syndrome |
MED12 | 99.82 | 0 | Opitz-Kaveggia syndrome |
MED13L | 99.52 | 0 | Mental retardation and distinctive facial features with or without cardiac defects |
MED17 | 98.79 | 0 | Microcephaly, postnatal progressive, with seizures and brain atrophy |
MED23 | 98.87 | 0 | Mental retardation, autosomal recessive 18 |
MEF2C | 99.52 | 0 | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations |
MEIS2 | 99.65 | 0 | Cleft palate, cardiac defects, and mental retardation |
METTL23 | 99.62 | 0 | Mental retardation, autosomal recessive 44 |
MFSD8 | 99.30 | 0 | Ceroid lipofuscinosis, neuronal, 7 |
MID1 | 97.46 | 0 | Opitz GBBB syndrome, type I |
MKKS | 99.58 | 0 | Bardet-Biedl syndrome 6 |
MKS1 | 99.54 | 0 | Bardet-Biedl syndrome 13 |
MLYCD | 87.33 | 0 | Malonyl-CoA decarboxylase deficiency |
MMACHC | 99.68 | 0 | Methylmalonic aciduria and homocystinuria, cblC type |
MOCS1 | 99.68 | 0 | Molybdenum cofactor deficiency A |
MOCS2 | 99.48 | 0 | Molybdenum cofactor deficiency B |
MOGS | 92.25 | 0 | Congenital disorder of glycosylation, type IIb |
MPDU1 | 99.69 | 0 | Congenital disorder of glycosylation, type If |
MPDZ | 99.22 | 0 | Hydrocephalus, nonsyndromic, autosomal recessive 2 |
MPLKIP | 99.63 | 0 | Trichothiodystrophy 4, nonphotosensitive |
MTFMT | 97.00 | 0 | Combined oxidative phosphorylation deficiency 15 |
MTHFR | 99.58 | 0 | Homocystinuria due to MTHFR deficiency |
MTM1 | 94.11 | 0 | Myotubular myopathy, X-linked |
MTOR | 99.61 | 0 | Smith-Kingsmore syndrome |
MTR | 99.55 | 0 | Homocystinuria-megaloblastic anemia, cblG complementation type |
MTRR | 99.33 | 0 | Homocystinuria-megaloblastic anemia, cbl E type |
MVK | 99.69 | 0 | Mevalonic aciduria |
MYCN | 82.91 | 0 | Feingold syndrome 1 |
MYO5A | 97.60 | 0 | Griscelli syndrome, type 1 |
MYT1L | 99.59 | 0 | Mental retardation, autosomal dominant 39 |
NAA10 | 87.47 | 0 | Ogden syndrome |
NACC1 | 99.66 | 0 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination |
NAGA | 99.67 | 0 | Schindler disease, type I |
NAGLU | 84.28 | 0 | Mucopolysaccharidosis type IIIB (Sanfilippo B) |
NALCN | 99.38 | 0 | Congenital contractures of the limbs and face, hypotonia, and developmental delay |
NARS2 | 98.96 | 0 | Combined oxidative phosphorylation deficiency 24 |
NBN | 98.67 | 0 | Nijmegen breakage syndrome |
NDE1 | 99.69 | 0 | Lissencephaly 4 (with microcephaly) |
NDP | 99.56 | 0 | Norrie disease |
NDST1 | 99.67 | 0 | Mental retardation, autosomal recessive 46 |
NDUFA1 | 97.69 | 0 | Mitochondrial complex I deficiency |
NDUFA11 | 99.69 | 0 | Mitochondrial complex I deficiency |
NDUFA12 | 99.64 | 0 | Leigh syndrome due to mitochondrial complex 1 deficiency |
NDUFA2 | 99.69 | 0 | Leigh syndrome due to mitochondrial complex I deficiency |
NDUFA9 | 99.27 | 0 | Leigh syndrome due to mitochondrial complex I deficiency |
NDUFAF6 | 89.55 | 0 | Leigh syndrome due to mitochondrial complex I deficiency |
NDUFS2 | 99.25 | 0 | Mitochondrial complex I deficiency |
NDUFS3 | 99.67 | 0 | Leigh syndrome due to mitochondrial complex I deficiency |
NDUFS4 | 99.05 | 0 | Mitochondrial complex I deficiency |
NDUFS7 | 99.38 | 0 | Leigh syndrome |
NEDD4L | 98.92 | 0 | Periventricular nodular heterotopia 7 |
NEXMIF | 97.66 | 0 | Mental retardation, X-linked 98 |
NFIA | 99.44 | 0 | Brain malformations and urinary tract defects |
NFIX | 99.64 | 0 | Sotos syndrome 2 |
NGF | 99.66 | 0 | Neuropathy, hereditary sensory and autonomic, type V |
NHEJ1 | 99.67 | 0 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
NHP2 | 99.64 | 0 | Dyskeratosis congenita, autosomal recessive 2 |
NHS | 88.25 | 0 | Nance-Horan syndrome |
NIN | 99.20 | 0 | Seckel syndrome 7 |
NIPBL | 98.53 | 0 | Cornelia de Lange syndrome 1 |
NKX2-1 | 92.05 | 0 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
NONO | 98.37 | 0 | Mental retardation, X-linked, syndromic 34 |
NOTCH1 | 96.74 | 0 | Adams-Oliver syndrome 5 |
NPC1 | 98.34 | 0 | Niemann-Pick disease, type C1 |
NPC2 | 99.67 | 0 | Niemann-pick disease, type C2 |
NPHP1 | 99.24 | 0 | Joubert syndrome 4 |
NPHP3 | 98.15 | 0 | Meckel syndrome 7 |
NR2F1 | 86.66 | 0 | Bosch-Boonstra-Schaaf optic atrophy syndrome |
NR5A1 | 99.25 | 0 | Adrenocortical insufficiency |
NRAS | 99.61 | 0 | Noonan syndrome 6 |
NRXN1 | 99.52 | 0 | Pitt-Hopkins-like syndrome 2 |
NSD1 | 99.26 | 0 | Sotos syndrome 1 |
NSDHL | 99.39 | 0 | CHILD syndrome |
NSUN2 | 95.86 | 0 | Mental retardation, autosomal recessive 5 |
OCLN | 99.47 | 0 | Pseudo-TORCH syndrome 1 |
OCRL | 92.17 | 0 | Lowe syndrome |
OFD1 | 92.99 | 0 | Orofaciodigital syndrome I |
OGT | 96.41 | 0 | Mental retardation, X-linked 106 |
OPHN1 | 90.64 | 0 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance |
ORC1 | 99.49 | 0 | Meier-Gorlin syndrome 1 |
ORC4 | 98.60 | 0 | Meier-Gorlin syndrome 2 |
ORC6 | 98.10 | 0 | Meier-Gorlin syndrome 3 |
OSGEP | 99.65 | 0 | Braun et al., Nat Genet 2017 : Galloway-Mowat syndrome |
OTC | 92.10 | 0 | Ornithine transcarbamylase deficiency |
OTUD6B | 97.03 | 0 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
PACS1 | 97.17 | 0 | Schuurs-Hoeijmakers syndrome |
PAFAH1B1 | 98.98 | 0 | Lissencephaly 1 |
PAH | 99.66 | 0 | Phenylketonuria |
PAK3 | 87.10 | 0 | Mental retardation, X-linked 30/47 |
PANK2 | 95.75 | 0 | Neurodegeneration with brain iron accumulation 1 |
PAX1 | 82.57 | 0 | Otofaciocervical syndrome 2 |
PAX3 | 99.68 | 0 | Craniofacial-deafness-hand syndrome |
PAX6 | 99.51 | 0 | Aniridia |
PC | 99.69 | 0 | Pyruvate carboxylase deficiency |
PCDH19 | 99.22 | 0 | Epileptic encephalopathy, early infantile, 9 |
PCGF2 | 99.69 | 0 | Fitzgerald et al., Nature 2015 : retard mental, retard dévelopemental |
PCNT | 99.50 | 0 | Microcephalic osteodysplastic primordial dwarfism, type II |
PDE4D | 97.76 | 0 | Acrodysostosis 2, with or without hormone resistance |
PDHA1 | 97.16 | 0 | Pyruvate dehydrogenase E1-alpha deficiency |
PDHB | 99.40 | 0 | Pyruvate dehydrogenase E1-beta deficiency |
PDHX | 98.49 | 0 | Lacticacidemia due to PDX1 deficiency |
PDSS1 | 82.84 | 0 | Coenzyme Q10 deficiency, primary, 2 |
PDSS2 | 98.95 | 0 | Coenzyme Q10 deficiency, primary, 3 |
PEPD | 99.61 | 0 | Prolidase deficiency |
PEX1 | 98.83 | 0 | Peroxisome biogenesis disorder 1A (Zellweger) |
PEX10 | 83.86 | 0 | Peroxisome biogenesis disorder 6A (Zellweger) |
PEX11B | 99.63 | 0 | Peroxisome biogenesis disorder 14B |
PEX12 | 99.40 | 0 | Peroxisome biogenesis disorder 3A (Zellweger) |
PEX13 | 99.25 | 0 | Peroxisome biogenesis disorder 11A (Zellweger) |
PEX14 | 99.66 | 0 | Peroxisome biogenesis disorder 13A (Zellweger) |
PEX16 | 99.69 | 0 | Peroxisome biogenesis disorder 8A (Zellweger) |
PEX19 | 99.60 | 0 | Peroxisome biogenesis disorder 12A (Zellweger) |
PEX2 | 99.69 | 0 | Peroxisome biogenesis disorder 5A (Zellweger) |
PEX26 | 96.96 | 0 | Peroxisome biogenesis disorder 7A (Zellweger) |
PEX3 | 98.89 | 0 | Peroxisome biogenesis disorder 10A (Zellweger) |
PEX5 | 99.15 | 0 | Peroxisome biogenesis disorder 2A (Zellweger) |
PEX6 | 98.57 | 0 | Peroxisome biogenesis disorder 4A (Zellweger) |
PEX7 | 90.36 | 0 | Peroxisome biogenesis disorder 9B |
PGAP1 | 97.25 | 0 | Mental retardation, autosomal recessive 42 |
PGAP2 | 99.68 | 0 | Hyperphosphatasia with mental retardation syndrome 3 |
PGAP3 | 99.15 | 0 | Hyperphosphatasia with mental retardation syndrome 4 |
PGK1 | 99.16 | 0 | Phosphoglycerate kinase 1 deficiency |
PHC1 | 99.66 | 0 | Microcephaly 11, primary, autosomal recessive |
PHF6 | 84.23 | 0 | Borjeson-Forssman-Lehmann syndrome |
PHF8 | 99.04 | 0 | Mental retardation syndrome, X-linked, Siderius type |
PHGDH | 99.67 | 0 | Phosphoglycerate dehydrogenase deficiency |
PHIP | 95.93 | 0 | Webster et al., Cold Spring Harb Mol Case Stud. 2016 : DD, ID, obésité et dysmorphies |
PIGA | 92.30 | 0 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
PIGG | 99.54 | 0 | Mental retardation, autosomal recessive 53 |
PIGL | 99.59 | 0 | CHIME syndrome |
PIGN | 97.78 | 0 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
PIGO | 99.67 | 0 | Hyperphosphatasia with mental retardation syndrome 2 |
PIGT | 99.63 | 0 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
PIGV | 99.66 | 0 | Hyperphosphatasia with mental retardation syndrome 1 |
PIGW | 99.68 | 0 | Hyperphosphatasia with mental retardation syndrome 5 |
PIGY | 99.66 | 0 | Hyperphosphatasia with mental retardation syndrome 6 |
PIK3R2 | 91.70 | 0 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
PLA2G6 | 99.69 | 0 | Neurodegeneration with brain iron accumulation 2B |
PLCB1 | 99.15 | 0 | Epileptic encephalopathy, early infantile, 12 |
PLCB4 | 99.09 | 0 | Auriculocondylar syndrome 2 |
PLOD1 | 98.58 | 0 | Ehlers-Danlos syndrome, type VI |
PLP1 | 99.86 | 0 | Pelizaeus-Merzbacher disease |
PMM2 | 98.47 | 0 | Congenital disorder of glycosylation, type Ia |
PNKP | 99.68 | 0 | Microcephaly, seizures, and developmental delay |
PNP | 99.66 | 0 | Immunodeficiency due to purine nucleoside phosphorylase deficiency |
POC1A | 99.26 | 0 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis |
POGZ | 98.81 | 0 | White-Sutton syndrome |
POLG | 99.59 | 0 | Mitochondrial DNA depletion syndrome 4B (MNGIE type) |
POLH | 99.55 | 0 | Xeroderma pigmentosum, variant type |
POLR3A | 99.40 | 0 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism |
POLR3B | 99.29 | 0 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism |
POMGNT1 | 99.66 | 0 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 |
POMGNT2 | 99.69 | 0 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 |
POMK | 99.66 | 0 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 |
POMT1 | 99.56 | 0 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 |
POMT2 | 98.42 | 0 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 |
PORCN | 99.91 | 0 | Focal dermal hypoplasia |
PPM1D | 98.20 | 0 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold |
PPP1CB | 99.40 | 0 | Noonan syndrome-like disorder with loose anagen hair 2 |
PPP2R1A | 99.69 | 0 | Mental retardation, autosomal dominant 36 |
PPP2R5D | 99.64 | 0 | Mental retardation, autosomal dominant 35 |
PPT1 | 99.67 | 0 | Ceroid lipofuscinosis, neuronal, 1 |
PQBP1 | 99.90 | 0 | Renpenning syndrome |
PRICKLE1 | 99.67 | 0 | Epilepsy, progressive myoclonic 1B |
PRMT7 | 99.21 | 0 | Short stature, brachydactyly, intellectual developmental disability, and seizures |
PRPS1 | 98.61 | 0 | Arts syndrome |
PRSS12 | 98.69 | 0 | Mental retardation, autosomal recessive 1 |
PSAP | 99.68 | 0 | Krabbe disease, atypical |
PSMD12 | 99.44 | 0 | Stankiewicz-Isidor syndrome |
PTCH1 | 97.64 | 0 | Holoprosencephaly 7 |
PTCHD1 | 99.37 | 0 | Autism, susceptibility to, X-linked 4 |
PTDSS1 | 99.56 | 0 | Lenz-Majewski hyperostotic dwarfism |
PTEN | 98.68 | 0 | Cowden syndrome 1 |
PTPN11 | 97.30 | 0 | LEOPARD syndrome 1 |
PUF60 | 99.56 | 0 | Verheij syndrome |
PURA | 84.89 | 0 | Mental retardation, autosomal dominant 31 |
PUS1 | 93.31 | 0 | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
PYCR1 | 99.67 | 0 | Cutis laxa, autosomal recessive, type IIB |
QDPR | 96.67 | 0 | Hyperphenylalaninemia, BH4-deficient, C |
RAB18 | 98.43 | 0 | Warburg micro syndrome 3 |
RAB27A | 95.80 | 0 | Griscelli syndrome, type 2 |
RAB39B | 99.96 | 0 | Mental retardation, X-linked 72 |
RAB3GAP1 | 99.24 | 0 | Warburg micro syndrome 1 |
RAB3GAP2 | 99.14 | 0 | Martsolf syndrome |
RAC1 | 87.43 | 0 | Mental retardation, autosomal dominant 48 |
RAD21 | 99.34 | 0 | Cornelia de Lange syndrome 4 |
RAF1 | 99.65 | 0 | Noonan syndrome 5 |
RAI1 | 97.85 | 0 | Smith-Magenis syndrome |
RARB | 99.52 | 0 | Microphthalmia, syndromic 12 |
RARS2 | 99.20 | 0 | Pontocerebellar hypoplasia, type 6 |
RASA2 | 95.15 | 0 | Aoki et al., JHG 2016 : RASopathie |
RAX | 78.51 | 0 | Microphthalmia, isolated 3 |
RBBP8 | 96.69 | 0 | Seckel syndrome 2 |
RBM10 | 99.86 | 0 | TARP syndrome |
RBM28 | 99.55 | 0 | Alopecia, neurologic defects, and endocrinopathy syndrome |
RBM8A | 99.68 | 0 | Thrombocytopenia-absent radius syndrome |
RBPJ | 99.36 | 0 | Adams-Oliver syndrome 3 |
RECQL4 | 91.13 | 0 | Baller-Gerold syndrome |
RELN | 99.47 | 0 | Lissencephaly 2 (Norman-Roberts type) |
RERE | 99.45 | 0 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
RFT1 | 97.48 | 0 | Congenital disorder of glycosylation, type In |
RIT1 | 99.66 | 0 | Noonan syndrome 8 |
RMND1 | 98.79 | 0 | Combined oxidative phosphorylation deficiency 11 |
RNASEH2A | 99.69 | 0 | Aicardi-Goutieres syndrome 4 |
RNASEH2B | 90.13 | 0 | Aicardi-Goutieres syndrome 2 |
RNASEH2C | 96.74 | 0 | Aicardi-Goutieres syndrome 3 |
RNASET2 | 99.45 | 0 | Leukoencephalopathy, cystic, without megalencephaly |
RNF113A | 99.85 | 0 | Trichothiodystrophy 5, nonphotosensitive |
ROGDI | 90.00 | 0 | Kohlschutter-Tonz syndrome |
RPGRIP1L | 95.44 | 0 | Joubert syndrome 7 |
RPIA | 98.01 | 0 | Ribose 5-phosphate isomerase deficiency |
RPS6KA3 | 85.79 | 0 | Coffin-Lowry syndrome |
RRAS | 94.39 | 0 | Flex et al., HMG 2014 : RASopathie |
RTEL1 | 99.69 | 0 | Dyskeratosis congenita, autosomal recessive 5 |
RTTN | 98.71 | 0 | Microcephaly, short stature, and polymicrogyria with seizures |
SALL1 | 99.68 | 0 | Townes-Brocks branchiootorenal-like syndrome |
SAMHD1 | 99.47 | 0 | Aicardi-Goutieres syndrome 5 |
SATB2 | 99.46 | 0 | Glass syndrome |
SC5D | 99.08 | 0 | Lathosterolosis |
SCN1A | 98.95 | 0 | Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) |
SCN2A | 98.85 | 0 | Epileptic encephalopathy, early infantile, 11 |
SCN8A | 99.37 | 0 | Epileptic encephalopathy, early infantile, 13 |
SCO2 | 99.68 | 0 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 |
SDCCAG8 | 99.19 | 0 | Bardet-Biedl syndrome 16 |
SDHAF1 | 66.11 | 0 | Mitochondrial complex II deficiency |
SEPSECS | 99.07 | 0 | Pontocerebellar hypoplasia type 2D |
SERAC1 | 98.98 | 0 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
SETBP1 | 98.39 | 0 | Mental retardation, autosomal dominant 29 |
SETD2 | 99.30 | 0 | Luscan-Lumish syndrome |
SETD5 | 99.55 | 0 | Mental retardation, autosomal dominant 23 |
SGSH | 96.47 | 0 | Mucopolysaccharidosis type IIIA (Sanfilippo A) |
SHANK2 | 83.77 | 0 | Autism susceptibility 17 |
SHANK3 | 78.63 | 0 | Phelan-McDermid syndrome |
SHH | 90.25 | 0 | Holoprosencephaly 3 |
SHOC2 | 97.89 | 0 | Noonan-like syndrome with loose anagen hair |
SHROOM4 | 99.52 | 0 | Stocco dos Santos X-linked mental retardation syndrome |
SIL1 | 99.65 | 0 | Marinesco-Sjogren syndrome |
SIN3A | 99.56 | 0 | Witteveen-Kolk syndrome |
SIX3 | 89.54 | 0 | Holoprosencephaly 2 |
SKI | 93.23 | 0 | Shprintzen-Goldberg syndrome |
SKIC3 | 99.17 | 0 | Trichohepatoenteric syndrome 1 |
SLC12A6 | 99.13 | 0 | Agenesis of the corpus callosum with peripheral neuropathy |
SLC16A2 | 99.71 | 0 | Allan-Herndon-Dudley syndrome |
SLC17A5 | 98.53 | 0 | Salla disease |
SLC19A3 | 99.50 | 0 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) |
SLC1A4 | 97.40 | 0 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
SLC25A1 | 86.05 | 0 | Combined D-2- and L-2-hydroxyglutaric aciduria |
SLC25A12 | 99.45 | 0 | Epileptic encephalopathy, early infantile, 39 |
SLC25A15 | 99.57 | 0 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |
SLC25A19 | 99.66 | 0 | Microcephaly, Amish type |
SLC25A22 | 99.68 | 0 | Epileptic encephalopathy, early infantile, 3 |
SLC2A1 | 93.34 | 0 | GLUT1 deficiency syndrome 1, infantile onset, severe |
SLC33A1 | 98.70 | 0 | Congenital cataracts, hearing loss, and neurodegeneration |
SLC35A2 | 99.98 | 0 | Congenital disorder of glycosylation, type IIm |
SLC35C1 | 99.69 | 0 | Congenital disorder of glycosylation, type IIc |
SLC45A1 | 92.61 | 0 | Intellectual developmental disorder with neuropsychiatric features |
SLC46A1 | 97.75 | 0 | Folate malabsorption, hereditary |
SLC4A4 | 99.23 | 0 | Renal tubular acidosis, proximal, with ocular abnormalities |
SLC6A1 | 99.61 | 0 | Myoclonic-atonic epilepsy |
SLC6A17 | 99.68 | 0 | Mental retardation, autosomal recessive 48 |
SLC6A3 | 99.68 | 0 | Parkinsonism-dystonia, infantile |
SLC6A8 | 92.97 | 0 | Cerebral creatine deficiency syndrome 1 |
SLC7A7 | 99.67 | 0 | Lysinuric protein intolerance |
SLC9A6 | 80.47 | 0 | Mental retardation, X-linked syndromic, Christianson type |
SMARCA2 | 97.63 | 0 | Nicolaides-Baraitser syndrome |
SMARCA4 | 99.68 | 0 | Coffin-Siris syndrome 4 |
SMARCB1 | 99.47 | 0 | Coffin-Siris syndrome 3 |
SMARCE1 | 98.87 | 0 | Coffin-Siris syndrome 5 |
SMC1A | 97.41 | 0 | Cornelia de Lange syndrome 2 |
SMC3 | 98.62 | 0 | Cornelia de Lange syndrome 3 |
SMOC1 | 98.99 | 0 | Microphthalmia with limb anomalies |
SMPD1 | 99.68 | 0 | Niemann-Pick disease, type A |
SMS | 83.70 | 0 | Mental retardation, X-linked, Snyder-Robinson type |
SNAP29 | 98.97 | 0 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
SNIP1 | 99.59 | 0 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism |
SNX14 | 97.83 | 0 | Spinocerebellar ataxia, autosomal recessive 20 |
SOBP | 96.13 | 0 | Mental retardation, anterior maxillary protrusion, and strabismus |
SON | 99.42 | 0 | ZTTK syndrome |
SOS1 | 98.22 | 0 | Noonan syndrome 4 |
SOS2 | 98.32 | 0 | Noonan syndrome 9 |
SOX10 | 93.26 | 0 | Waardenburg syndrome, type 2E, with or without neurologic involvement |
SOX11 | 84.37 | 0 | Mental retardation, autosomal dominant, 27 |
SOX2 | 95.94 | 0 | Optic nerve hypoplasia and abnormalities of the central nervous system |
SOX5 | 99.56 | 0 | Lamb-Shaffer syndrome |
SPECC1L | 99.49 | 0 | Opitz GBBB syndrome, type II |
SPR | 77.10 | 0 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency |
SPRED1 | 99.22 | 0 | Legius syndrome |
SPTAN1 | 99.48 | 0 | Epileptic encephalopathy, early infantile, 5 |
SRCAP | 99.65 | 0 | Floating-Harbor syndrome |
SRD5A3 | 96.86 | 0 | Congenital disorder of glycosylation, type Iq |
ST3GAL3 | 99.66 | 0 | Mental retardation, autosomal recessive 12 |
ST3GAL5 | 85.32 | 0 | Salt and pepper developmental regression syndrome |
STAG1 | 98.01 | 0 | Mental retardation, autosomal dominant 47 |
STAMBP | 99.58 | 0 | Microcephaly-capillary malformation syndrome |
STIL | 99.24 | 0 | Microcephaly 7, primary, autosomal recessive |
STRA6 | 99.67 | 0 | Microphthalmia, syndromic 9 |
STT3A | 99.55 | 0 | Congenital disorder of glycosylation, type Iw |
STT3B | 95.54 | 0 | Congenital disorder of glycosylation, type Ix |
STX1B | 99.68 | 0 | Generalized epilepsy with febrile seizures plus, type 9 |
STXBP1 | 99.55 | 0 | Epileptic encephalopathy, early infantile, 4 |
SUCLG1 | 98.06 | 0 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) |
SUOX | 99.68 | 0 | Sulfite oxidase deficiency |
SURF1 | 86.96 | 0 | Leigh syndrome, due to COX IV deficiency |
SYN1 | 88.25 | 0 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders |
SYNCRIP | 99.45 | 0 | Lelieveld et al., Nat Neurosci 2016 : ID |
SYNE1 | 99.44 | 0 | Spinocerebellar ataxia, autosomal recessive 8 |
SYNGAP1 | 99.68 | 0 | Mental retardation, autosomal dominant 5 |
SYP | 93.14 | 0 | Mental retardation, X-linked 96 |
SYT14 | 88.69 | 0 | Spinocerebellar ataxia, autosomal recessive 11 |
TAF1 | 97.05 | 0 | Mental retardation, X-linked, syndromic 33 |
TAF2 | 98.57 | 0 | Mental retardation, autosomal recessive 40 |
TBC1D23 | 97.70 | 0 | Pontocerebellar hypoplasia, type 11 |
TBC1D24 | 99.68 | 0 | Epileptic encephalopathy, early infantile, 16 |
TBC1D7 | 98.94 | 0 | Macrocephaly/megalencephaly syndrome, autosomal recessive |
TBCE | 98.41 | 0 | Hypoparathyroidism-retardation-dysmorphism syndrome |
TBCK | 98.05 | 0 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
TBL1XR1 | 98.00 | 0 | Mental retardation, autosomal dominant 41 |
TCF20 | 99.69 | 0 | Schäfgen et al., EJHG 2016 : TSA, DI, croissance excessive et hypotonie |
TCF4 | 99.65 | 0 | Pitt-Hopkins syndrome |
TCOF1 | 99.61 | 0 | Treacher Collins syndrome 1 |
TCTN1 | 99.08 | 0 | Joubert syndrome 13 |
TCTN2 | 99.05 | 0 | Joubert syndrome 24 |
TCTN3 | 99.61 | 0 | Joubert syndrome 18 |
TECPR2 | 99.41 | 0 | Spastic paraplegia 49, autosomal recessive |
TECR | 99.69 | 0 | Mental retardation, autosomal recessive 14 |
TFAP2A | 99.48 | 0 | Branchiooculofacial syndrome |
TGIF1 | 99.69 | 0 | Holoprosencephaly 4 |
TH | 98.57 | 0 | Segawa syndrome, recessive |
THOC2 | 91.08 | 0 | Mental retardation, X-linked 12/35 |
THOC6 | 99.66 | 0 | Beaulieu-Boycott-Innes syndrome |
THRA | 99.60 | 0 | Hypothyroidism, congenital, nongoitrous, 6 |
TIMM8A | 99.66 | 0 | Mohr-Tranebjaerg syndrome |
TINF2 | 99.67 | 0 | Dyskeratosis congenita, autosomal dominant 3 |
TMCO1 | 95.48 | 0 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome |
TMEM107 | 99.69 | 0 | Orofaciodigital syndrome XVI |
TMEM138 | 99.68 | 0 | Joubert syndrome 16 |
TMEM165 | 87.14 | 0 | Congenital disorder of glycosylation, type IIk |
TMEM216 | 99.69 | 0 | Joubert syndrome 2 |
TMEM231 | 99.62 | 0 | Joubert syndrome 20 |
TMEM237 | 97.88 | 0 | Joubert syndrome 14 |
TMEM67 | 97.57 | 0 | Joubert syndrome 6 |
TMEM70 | 97.01 | 0 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 |
TNK2 | 99.30 | 0 | Hitomi et al., Ann Neurol 2013 : severe autosomal recessive infantile-onset epilepsy and ID |
TPK1 | 98.92 | 0 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) |
TPP1 | 99.65 | 0 | Spinocerebellar ataxia, autosomal recessive 7 |
TRAPPC11 | 98.70 | 0 | Muscular dystrophy, limb-girdle, type 2S |
TRAPPC9 | 99.57 | 0 | Mental retardation, autosomal recessive 13 |
TREX1 | 99.69 | 0 | Aicardi-Goutieres syndrome 1, dominant and recessive |
TRIM32 | 99.68 | 0 | Bardet-Biedl syndrome 11 |
TRIO | 97.17 | 0 | Mental retardation, autosomal dominant 44 |
TRIP12 | 99.18 | 0 | Zhang et al., Hum Gen 2017 : intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. |
TRMT10A | 99.08 | 0 | Microcephaly, short stature, and impaired glucose metabolism 1 |
TRMU | 94.99 | 0 | Liver failure, transient infantile |
TRPV4 | 99.64 | 0 | Spondylometaphyseal dysplasia, Kozlowski type |
TSEN2 | 99.60 | 0 | Pontocerebellar hypoplasia type 2B |
TSEN54 | 87.28 | 0 | Pontocerebellar hypoplasia type 2A |
TSFM | 85.15 | 0 | Combined oxidative phosphorylation deficiency 3 |
TSPAN7 | 98.69 | 0 | Mental retardation, X-linked 58 |
TTC8 | 98.67 | 0 | Bardet-Biedl syndrome 8 |
TTI2 | 99.57 | 0 | Mental retardation, autosomal recessive 39 |
TUBA1A | 99.69 | 0 | Lissencephaly 3 |
TUBA8 | 97.24 | 0 | Cortical dysplasia, complex, with other brain malformations 8 |
TUBB2A | 95.11 | 0 | Cortical dysplasia, complex, with other brain malformations 5 |
TUBB2B | 99.68 | 0 | Cortical dysplasia, complex, with other brain malformations 7 |
TUBB3 | 94.69 | 0 | Cortical dysplasia, complex, with other brain malformations 1 |
TUBB4A | 98.34 | 0 | Leukodystrophy, hypomyelinating, 6 |
TUBG1 | 99.69 | 0 | Cortical dysplasia, complex, with other brain malformations 4 |
TUBGCP6 | 99.69 | 0 | Microcephaly and chorioretinopathy, autosomal recessive, 1 |
TUSC3 | 99.45 | 0 | Mental retardation, autosomal recessive 7 |
TWIST1 | 59.51 | 0 | Saethre-Chotzen syndrome |
UBE2A | 81.32 | 0 | Mental retardation, X-linked syndromic, Nascimento-type |
UBE3A | 98.84 | 0 | Angelman syndrome |
UBE3B | 99.43 | 0 | Kaufman oculocerebrofacial syndrome |
UBR1 | 98.99 | 0 | Johanson-Blizzard syndrome |
UNC80 | 99.46 | 0 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
UPF3B | 90.82 | 0 | Mental retardation, X-linked, syndromic 14 |
UQCRQ | 99.62 | 0 | Mitochondrial complex III deficiency, nuclear type 4 |
UROC1 | 99.69 | 0 | Urocanase deficiency |
USP18 | 99.69 | 0 | Pseudo-TORCH syndrome 2 |
USP9X | 93.59 | 0 | Mental retardation, X-linked 99 |
VLDLR | 97.10 | 0 | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
VPS13B | 98.95 | 0 | Cohen syndrome |
VRK1 | 99.08 | 0 | Pontocerebellar hypoplasia type 1A |
WAC | 97.24 | 0 | Desanto-Shinawi syndrome |
WDPCP | 98.77 | 0 | Bardet-Biedl syndrome 15 |
WDR26 | 99.46 | 0 | Skraban-Deardorff syndrome |
WDR45 | 99.94 | 0 | Neurodegeneration with brain iron accumulation 5 |
WDR45B | 98.84 | 0 | Suleiman et al., Clin Genet 2017 : intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia |
WDR62 | 99.58 | 0 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations |
WDR73 | 99.54 | 0 | Galloway-Mowat syndrome |
WDR81 | 99.65 | 0 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 |
WWOX | 99.63 | 0 | Epileptic encephalopathy, early infantile, 28 |
XPA | 95.49 | 0 | Xeroderma pigmentosum, group A |
XPC | 99.66 | 0 | Xeroderma pigmentosum, group C |
XYLT1 | 91.40 | 0 | Desbuquois dysplasia 2 |
YAP1 | 95.59 | 0 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation |
YY1 | 97.61 | 0 | Gabriele-de Vries syndrome |
ZBTB16 | 99.69 | 0 | Skeletal defects, genital hypoplasia, and mental retardation |
ZBTB18 | 99.10 | 0 | Mental retardation, autosomal dominant 22 |
ZBTB20 | 99.63 | 0 | Primrose syndrome |
ZBTB24 | 99.63 | 0 | Immunodeficiency-centromeric instability-facial anomalies syndrome-2 |
ZC4H2 | 97.81 | 0 | Wieacker-Wolff syndrome |
ZDHHC9 | 98.90 | 0 | Mental retardation, X-linked syndromic, Raymond type |
ZEB2 | 99.54 | 0 | Mowat-Wilson syndrome |
ZFYVE26 | 99.53 | 0 | Spastic paraplegia 15, autosomal recessive |
ZIC2 | 67.20 | 0 | Holoprosencephaly 5 |
ZMPSTE24 | 98.68 | 0 | Mandibuloacral dysplasia with type B lipodystrophy |
ZMYND11 | 99.50 | 0 | Mental retardation, autosomal dominant 30 |
ZNF335 | 99.63 | 0 | Microcephaly 10, primary, autosomal recessive |
ZNF41 | 99.90 | 0 | Shoichet et al., AJHG 2013 : X-Linked Mental Retardation |
ZNF711 | 89.61 | 0 | Mental retardation, X-linked 97 |