Neurodevelopmental disorders

Disease Term Disease ID Gene Symbol References
Unspecified neurodevelopmental disorder C4237474 PACS2 30290155
CTCF-related neurodevelopmental disorder 363611 CTCF
PLAA-associated neurodevelopmental disorder 521426 PLAA
Neurodevelopmental Disorders C1535926 ADCY5 28191889
ANK2 28191889
CHD2 29942082
CTNNB1 28191889
DDX3X 29942082, 28191889
DLG4 28191889
DNM1 29942082
DSCAM 28191889
DYRK1A 28191889, 29942082
EEF1A2 29942082
FOXG1 29942082
GABRB2 29942082
GABRB3 29942082
GNAO1 29942082
GRIN2B 28191889, 29942082
HNRNPU 29942082
ILF2 28191889
ITPR1 28191889
KCNH1 29942082
KCNQ2 29942082
LMX1B 20199424
MECP2 29942082, 28191889
MEF2C 29942082
KMT2A 28191889
PAK1 30290153
PAX5 28191889
PHF2 28191889
PLXNB1 28191889
PPP2R5D 28191889
PTEN 28191889
PTK7 28191889
PTPN11 28191889
PURA 29942082
SCN1A 29942082
SCN2A 29942082, 28191889
SCN8A 29942082
SLC6A1 29942082, 28191889
SNAP25 29942082
SPAST 28191889
CDKL5 29942082
STXBP1 28191889, 29942082
TCF4 28191889
TCF7L2 28191889
NKX2-1
TRIO 28191889
BRPF1
SMC1A 29942082
CUL3 28191889
PPM1D 28191889
CASK 28191889
SYNGAP1 29942082, 28191889
BRSK2 30879638
SMC3 28191889
DLGAP1 28191889
TRIP12 28191889
CDC42BPB 28191889
SRGAP3 28191889
CERT1 29942082, 28191889
TBR1 28191889
NCKAP1 28191889
SRCAP 28191889
WDR45 28191889, 29942082
DHX30 29100085
RIMS1 28191889
WDFY3 28191889
ZNF292 28191889
MYT1L 28191889
IQSEC2 29942082
TNRC6B 28191889
POGZ 28191889
ZC3H4 28191889
MED13L 28191889
ADNP 28191889
SETBP1 28191889
GIGYF2 28191889
TANC2 31616000, 28191889
FOXP1 28191889
SETD2 28191889
ANKRD11 29942082, 28191889
KMT5B 28191889
WAC 28191889
SETD5 28191889
CACNA2D3 28191889
ASH1L 28191889
KMT2E 28191889
ARID1B 28191889, 29942082
KMT2C 28191889
HIVEP3 28191889
TBL1XR1 28191889
ALG13 29942082
ASXL3 28191889, 29942082
DOCK8 28191889
KATNAL2 28191889
PARD3B 28191889
EBF3
NEXMIF 29942082
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME C4310739 CSNK2A1 27048600
RERE-related neurodevelopmental syndrome 494344 RERE