- Genetic tests
- Intellectual disability (gene panel)
Intellectual disability (gene panel)
Full name: |
Intellectual disability (gene panel)
|
Test type: |
Clinical
|
Test specialty: |
Molecular Genetics
|
Test purpose: |
Post-natal Diagnosis
|
Specimen: |
Peripheral (whole) blood on EDTA,
DNA
|
Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
|
Accreditation (ISO 15189): |
2022-02-24 / 2026-02-23
|
Turnaround time (maximum): |
Unknown
|
Document(s): | |
Created: |
02 Sep 2019 - 07:13
|
Changed: |
16 Jan 2024 - 13:54
|
URL: |
- A2ML1
- ABCC9
- ABCD1
- ABHD5
- ACAD9
- ACO2
- ACOX1
- ACSL4
- ACTB
- ACTG1
- ACY1
- ADAR
- ADAT3
- ADGRG1
- ADK
- ADNP
- ADSL
- AFF2
- AFG2A
- AGA
- AGPAT2
- AHCY
- AHDC1
- AHI1
- AIMP1
- AKT3
- ALDH18A1
- ALDH3A2
- ALDH4A1
- ALDH5A1
- ALDH7A1
- ALG1
- ALG11
- ALG12
- ALG13
- ALG2
- ALG3
- ALG6
- ALG9
- ALMS1
- ALX1
- ALX4
- AMER1
- AMPD2
- AMT
- ANK3
- ANKH
- ANKRD11
- AP1S1
- AP1S2
- AP4B1
- AP4M1
- AP4S1
- APTX
- ARCN1
- ARFGEF2
- ARG1
- ARHGAP31
- ARHGEF2
- ARHGEF9
- ARID1A
- ARID1B
- ARID2
- ARL13B
- ARL6
- ARSL
- ARX
- ASH1L
- ASNS
- ASPA
- ASPM
- ASXL1
- ASXL3
- ATIC
- ATP6V0A2
- ATP7A
- ATR
- ATRIP
- ATRX
- AUH
- AUTS2
- B3GLCT
- B4GALT1
- B4GALT7
- BBIP1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- BCKDHB
- BCL11A
- BCOR
- BCS1L
- BLM
- BRAF
- BRPF1
- BRWD3
- BSCL2
- BTD
- BUB1B
- C12ORF57
- C19ORF12
- C2CD3
- CA8
- CACNA1A
- CACNA1C
- CACNA1D
- CAMK2A
- CAMK2B
- CANT1
- CASK
- CAV1
- CAVIN1
- CBL
- CBS
- CC2D1A
- CC2D2A
- CCDC22
- CCDC39
- CCDC78
- CCDC88C
- CD96
- CDC45
- CDC6
- CDH15
- CDK13
- CDK5RAP2
- CDKL5
- CDON
- CDT1
- CENPJ
- CEP135
- CEP152
- CEP290
- CEP41
- CEP57
- CEP63
- CERT1
- CHAMP1
- CHAT
- CHD2
- CHD4
- CHD7
- CHD8
- CHKB
- CHMP1A
- CHRNA4
- CHRND
- CISD2
- CLCN4
- CLN3
- CLN5
- CLN6
- CLN8
- CLP1
- CLPB
- CNKSR2
- CNTNAP2
- COASY
- COG1
- COG5
- COG6
- COG7
- COG8
- COL4A1
- COL4A2
- COLEC10
- COLEC11
- COQ2
- COQ4
- COQ6
- COQ7
- COQ8A
- COQ9
- COX10
- CPLANE1
- CRADD
- CRBN
- CREBBP
- CRPPA
- CSNK2A1
- CSPP1
- CTC1
- CTCF
- CTNNB1
- CTSA
- CTSD
- CUL4B
- CYB5R3
- CYP27A1
- D2HGDH
- DAG1
- DARS2
- DCAF17
- DCC
- DCPS
- DCX
- DDB2
- DDHD2
- DDX11
- DDX3X
- DEAF1
- DHCR24
- DHCR7
- DHFR
- DHX30
- DIAPH1
- DKC1
- DLD
- DLG3
- DLL4
- DNAJC19
- DNM1
- DNMT3A
- DNMT3B
- DOCK6
- DOCK8
- DPAGT1
- DPH1
- DPM1
- DPP6
- DSCAM
- DYNC1H1
- DYRK1A
- EARS2
- EBF3
- EBP
- ECHS1
- EDC3
- EEF1A2
- EFNB1
- EFTUD2
- EHMT1
- EIF2AK3
- EIF2S3
- ELOVL4
- ELP2
- EML1
- EMX2
- ENTPD1
- EOGT
- EP300
- EPB41L1
- EPG5
- ERCC2
- ERCC3
- ERCC4
- ERCC5
- ERCC6
- ERCC8
- ERLIN2
- ESCO2
- ETHE1
- EXOSC3
- EZH2
- EZR
- FARS2
- FAT4
- FBXL4
- FBXO31
- FGD1
- FGFR1
- FGFR2
- FGFR3
- FH
- FKRP
- FKTN
- FLNA
- FMN2
- FMR1
- FOLR1
- FOXG1
- FOXP1
- FOXP2
- FOXRED1
- FRAS1
- FREM2
- FRMPD4
- FTCD
- FTL
- FTO
- FTSJ1
- FUCA1
- GABRA3
- GABRB3
- GABRG2
- GALT
- GAMT
- GAN
- GATAD2B
- GATM
- GBE1
- GCH1
- GCSH
- GDI1
- GFAP
- GJC2
- GLB1
- GLDC
- GLI2
- GLI3
- GLUL
- GLYCTK
- GM2A
- GMPPA
- GMPPB
- GNAI3
- GNAO1
- GNAS
- GNPAT
- GNPTAB
- GNPTG
- GNS
- GPC3
- GPHN
- GPSM2
- GPT2
- GRIA3
- GRID2
- GRIK2
- GRIN1
- GRIN2A
- GRIN2B
- GRIP1
- GRM1
- GSS
- GTF2E2
- GTF2H5
- GTPBP3
- GUSB
- HACE1
- HCFC1
- HCN1
- HDAC4
- HDAC8
- HECW2
- HEPACAM
- HERC1
- HERC2
- HESX1
- HEXA
- HEXB
- HGSNAT
- HIVEP2
- HLCS
- HNMT
- HNRNPH2
- HNRNPK
- HNRNPU
- HOXA1
- HPRT1
- HRAS
- HSD17B10
- HSPG2
- HUWE1
- HYCC1
- IARS1
- IARS2
- IDS
- IDUA
- IER3IP1
- IFIH1
- IFT172
- IFT27
- IFT57
- IGF1
- IL1RAPL1
- INPP5E
- INTU
- IQSEC2
- IRX5
- ITGA7
- ITPR1
- JAM3
- KANSL1
- KAT6A
- KAT6B
- KCNC1
- KCNC3
- KCNH1
- KCNJ10
- KCNJ11
- KCNK9
- KCNMA1
- KCNQ2
- KCNQ5
- KCNT1
- KCTD7
- KDM1A
- KDM5C
- KDM6A
- KIAA0586
- KIAA0753
- KIF11
- KIF1A
- KIF4A
- KIF5A
- KIF5C
- KIF7
- KIFBP
- KIRREL3
- KLC2
- KMT2A
- KMT2C
- KMT2D
- KMT2E
- KMT5B
- KNL1
- KPTN
- KRAS
- L1CAM
- L2HGDH
- LAMA1
- LAMA2
- LAMB1
- LAMC3
- LAMP2
- LARGE1
- LARP7
- LAS1L
- LIAS
- LIG4
- LINS1
- LIPT1
- LMBRD1
- LMNA
- LRP2
- LZTFL1
- LZTR1
- MAGEL2
- MAN1B1
- MAN2B1
- MANBA
- MAOA
- MAP2K1
- MAP2K2
- MASP1
- MAT1A
- MBD5
- MBOAT7
- MBTPS2
- MCCC1
- MCOLN1
- MCPH1
- MECP2
- MED12
- MED13L
- MED17
- MED23
- MEF2C
- MEIS2
- METTL23
- MFSD8
- MID1
- MKKS
- MKS1
- MLYCD
- MMACHC
- MOCS1
- MOCS2
- MOGS
- MPDU1
- MPDZ
- MPLKIP
- MTFMT
- MTHFR
- MTM1
- MTOR
- MTR
- MTRR
- MVK
- MYCN
- MYO5A
- MYT1L
- NAA10
- NACC1
- NAGA
- NAGLU
- NALCN
- NARS2
- NBN
- NDE1
- NDP
- NDST1
- NDUFA1
- NDUFA11
- NDUFA12
- NDUFA2
- NDUFA9
- NDUFAF6
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS7
- NEDD4L
- NEXMIF
- NFIA
- NFIX
- NGF
- NHEJ1
- NHP2
- NHS
- NIN
- NIPBL
- NKX2-1
- NONO
- NOTCH1
- NPC1
- NPC2
- NPHP1
- NPHP3
- NR2F1
- NR5A1
- NRAS
- NRXN1
- NSD1
- NSDHL
- NSUN2
- OCLN
- OCRL
- OFD1
- OGT
- OPHN1
- ORC1
- ORC4
- ORC6
- OSGEP
- OTC
- OTUD6B
- PACS1
- PAFAH1B1
- PAH
- PAK3
- PANK2
- PAX1
- PAX3
- PAX6
- PC
- PCDH19
- PCGF2
- PCNT
- PDE4D
- PDHA1
- PDHB
- PDHX
- PDSS1
- PDSS2
- PEPD
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PEX7
- PGAP1
- PGAP2
- PGAP3
- PGK1
- PHC1
- PHF6
- PHF8
- PHGDH
- PHIP
- PIGA
- PIGG
- PIGL
- PIGN
- PIGO
- PIGT
- PIGV
- PIGW
- PIGY
- PIK3R2
- PLA2G6
- PLCB1
- PLCB4
- PLOD1
- PLP1
- PMM2
- PNKP
- PNP
- POC1A
- POGZ
- POLG
- POLH
- POLR3A
- POLR3B
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- PORCN
- PPM1D
- PPP1CB
- PPP2R1A
- PPP2R5D
- PPT1
- PQBP1
- PRICKLE1
- PRMT7
- PRPS1
- PRSS12
- PSAP
- PSMD12
- PTCH1
- PTCHD1
- PTDSS1
- PTEN
- PTPN11
- PUF60
- PURA
- PUS1
- PYCR1
- QDPR
- RAB18
- RAB27A
- RAB39B
- RAB3GAP1
- RAB3GAP2
- RAC1
- RAD21
- RAF1
- RAI1
- RARB
- RARS2
- RASA2
- RAX
- RBBP8
- RBM10
- RBM28
- RBM8A
- RBPJ
- RECQL4
- RELN
- RERE
- RFT1
- RIT1
- RMND1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASET2
- RNF113A
- ROGDI
- RPGRIP1L
- RPIA
- RPS6KA3
- RRAS
- RTEL1
- RTTN
- SALL1
- SAMHD1
- SATB2
- SC5D
- SCN1A
- SCN2A
- SCN8A
- SCO2
- SDCCAG8
- SDHAF1
- SEPSECS
- SERAC1
- SETBP1
- SETD2
- SETD5
- SGSH
- SHANK2
- SHANK3
- SHH
- SHOC2
- SHROOM4
- SIL1
- SIN3A
- SIX3
- SKI
- SKIC3
- SLC12A6
- SLC16A2
- SLC17A5
- SLC19A3
- SLC1A4
- SLC25A1
- SLC25A12
- SLC25A15
- SLC25A19
- SLC25A22
- SLC2A1
- SLC33A1
- SLC35A2
- SLC35C1
- SLC45A1
- SLC46A1
- SLC4A4
- SLC6A1
- SLC6A17
- SLC6A3
- SLC6A8
- SLC7A7
- SLC9A6
- SMARCA2
- SMARCA4
- SMARCB1
- SMARCE1
- SMC1A
- SMC3
- SMOC1
- SMPD1
- SMS
- SNAP29
- SNIP1
- SNX14
- SOBP
- SON
- SOS1
- SOS2
- SOX10
- SOX11
- SOX2
- SOX5
- SPECC1L
- SPR
- SPRED1
- SPTAN1
- SRCAP
- SRD5A3
- ST3GAL3
- ST3GAL5
- STAG1
- STAMBP
- STIL
- STRA6
- STT3A
- STT3B
- STX1B
- STXBP1
- SUCLG1
- SUOX
- SURF1
- SYN1
- SYNCRIP
- SYNE1
- SYNGAP1
- SYP
- SYT14
- TAF1
- TAF2
- TBC1D23
- TBC1D24
- TBC1D7
- TBCE
- TBCK
- TBL1XR1
- TCF20
- TCF4
- TCOF1
- TCTN1
- TCTN2
- TCTN3
- TECPR2
- TECR
- TFAP2A
- TGIF1
- TH
- THOC2
- THOC6
- THRA
- TIMM8A
- TINF2
- TMCO1
- TMEM107
- TMEM138
- TMEM165
- TMEM216
- TMEM231
- TMEM237
- TMEM67
- TMEM70
- TNK2
- TPK1
- TPP1
- TRAPPC11
- TRAPPC9
- TREX1
- TRIM32
- TRIO
- TRIP12
- TRMT10A
- TRMU
- TRPV4
- TSEN2
- TSEN54
- TSFM
- TSPAN7
- TTC8
- TTI2
- TUBA1A
- TUBA8
- TUBB2A
- TUBB2B
- TUBB3
- TUBB4A
- TUBG1
- TUBGCP6
- TUSC3
- TWIST1
- UBE2A
- UBE3A
- UBE3B
- UBR1
- UNC80
- UPF3B
- UQCRQ
- UROC1
- USP18
- USP9X
- VLDLR
- VPS13B
- VRK1
- WAC
- WDPCP
- WDR26
- WDR45
- WDR45B
- WDR62
- WDR73
- WDR81
- WWOX
- XPA
- XPC
- XYLT1
- YAP1
- YY1
- ZBTB16
- ZBTB18
- ZBTB20
- ZBTB24
- ZC4H2
- ZDHHC9
- ZEB2
- ZFYVE26
- ZIC2
- ZMPSTE24
- ZMYND11
- ZNF335
- ZNF41
- ZNF711
-
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