Disease Term Disease ID Gene Symbol References
CLCN4-related X-linked intellectual disability syndrome 485350 CLCN4
Mental Retardation, X-Linked 1 C2931498 AGTR2 14598163
CLCN4 25644381
DLG3 15185169
DMD 23900271
ACSL4 11889465
GDI1 22002931
HCFC1 23000143
MECP2 11309367
PAK3 18523455
RPS6KA3 17100996
SYP 19377476
TSPAN7 12070254, 10655063
ZNF711 19377476
ZNF41 23871722
USP9X 24607389
ARHGEF6 11017088
FRMPD4 25644381
MED12
MID2 24115387
IL1RAPL1 16470793, 19012350
CNKSR2 25644381
IQSEC2 23674175, 26793055, 27369185, 27009485, 27665735, 20473311, 26733290, 28815955, 21686261, 27652284
FTSJ1 18081026
STEEP1 29374277
UPF3B 17704778, 19238151
ALG13 24501762
SLC9A7 30335141
RAB39B 20159109
PTCHD1 20844286, 21091464
ARX 15850492
ZNF81 15121780
USP27X 25644381
MENTAL RETARDATION, X-LINKED 100 C3890167 KIF4A
MENTAL RETARDATION, X-LINKED 101 C3890168 MID2 24115387
MENTAL RETARDATION, X-LINKED 102 C4085582 DDX3X 26235985, 25533962
MENTAL RETARDATION, X-LINKED 103 C4310818 KLHL15 25644381
MENTAL RETARDATION, X-LINKED 104 C4310817 FRMPD4 29267967, 25644381
MENTAL RETARDATION, X-LINKED 105 C4310816 USP27X 25644381
MENTAL RETARDATION, X-LINKED 12 C0796218 THOC2 26166480, 19377476
Mental Retardation, X-Linked 19 C0796225 RPS6KA3 17100996, 10319851
MENTAL RETARDATION, X-LINKED 31 C0796238 HSD17B10
Mental Retardation, X-Linked 45 C1845333 ZNF81
MENTAL RETARDATION, X-LINKED 61 C4283894 RLIM 25644381, 25735484, 19945382
MENTAL RETARDATION, X-LINKED 72 C1846038 RAB39B 25434005
MENTAL RETARDATION, X-LINKED 90 (disorder) C3275443 DLG3
MENTAL RETARDATION, X-LINKED 96 C3275408 SYP 19377476
MENTAL RETARDATION, X-LINKED 98 C3806730 NEXMIF 23615299, 27358180, 25529582, 15466006, 24307393
MENTAL RETARDATION, X-LINKED 99 C3806746 USP9X 26833328, 24607389
MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 C1846145 RBMX
MENTAL RETARDATION, X-LINKED, SYNDROMIC 16 C3275558 FGD1
WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME C1839736 HDAC8 22889856
LAS1L 25644381, 26358559
X-linked intellectual disability due to GRIA3 mutations 364028 GRIA3
X-linked intellectual disability, Cabezas type 85293 CUL4B
X-linked intellectual disability, Cantagrel type 85277 NEXMIF
X-linked intellectual disability, Golabi-Ito-Hall type 93947 PQBP1
X-linked intellectual disability, Hedera type 93952 ATP6AP2
X-linked intellectual disability, Najm type 163937 CASK
X-linked intellectual disability, Nascimento type 163956 UBE2A
X-linked intellectual disability, Porteous type 93945 PQBP1
X-linked intellectual disability, Siderius type 85287 PHF8
X-linked intellectual disability, Snyder type 3063 SMS
X-linked intellectual disability, Stocco Dos Santos type 85288 SHROOM4
X-linked intellectual disability, Sutherland-Haan type 93950 PQBP1
X-linked intellectual disability, Van Esch type 163976 POLA1