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  2. IFT57

IFT57

Analyte Export to PDF
Name:
intraflagellar transport 57
Symbol:
IFT57
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
FLJ10147
HIPPI
MHS4R2
XREF(s):
Orphanet
Genatlas
HGNC
Reactome
Ensembl
OMIM
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Intellectual disability/Epilepsy (1091 genes) - ULG
    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
    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
    CPLANE1 98.89 0 Joubert syndrome 17
    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
    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
    CERT1 99.15 0 Mental retardation, autosomal dominant 34
    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
    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
    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
    HYCC1 98.81 0 Leukodystrophy, hypomyelinating, 5
    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
    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
    CRPPA 92.51 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
    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
    NEXMIF 97.66 0 Mental retardation, X-linked 98
    KIF11 98.74 0 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
    KIF1A 99.66 0 Mental retardation, autosomal dominant 9
    KIFBP 96.44 0 Goldberg-Shprintzen megacolon syndrome
    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
    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
    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
    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
    AFG2A 98.88 0 Epilepsy, hearing loss, and mental retardation 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
    SKIC3 99.17 0 Trichohepatoenteric syndrome 1
    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