1. Diseases
  2. Non-specific syndromic intellectual disability

Non-specific syndromic intellectual disability

Disease Export to PDF
Name:
Non-specific syndromic intellectual disability
Description:
A rare genetic intellectual disability characterized by the association of intellectual disability with variable other anomalies in the absence of a well-characterized syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioral problems, and abnormalities of various other organ systems.
ORPHAcode:
528084
Synonyms:
Complex neurodevelopmental disorder
XREF(s):
Orphanet
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
ICD-10
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
Analyte(s):
ZMIZ1
PUS7
TRAPPC4
MAN2C1
BAP1
TRIP12
ZNF526
BCORL1
CHD5
BRWD3
TBR1
AGO1
KMT2E
SVBP
FBXW11
ANKRD17
EMC10
BCAS3
SPTBN1
LMBRD2
TRMT1
TAF4
EIF4A2
SCAF4
CAPRIN1
PPP2CA
TMEM222
OTUD5
TET3
SIAH1
RAC3
FAM50A
ZMYM2
AP1G1
ATP9A
DOHH
ADGRL1
CSNK2A1
SATB1
TNRC6B
SRCAP
RNF2
SYNCRIP
GNB2
PRPF8
NRCAM
H4C5
TIAM1
CACNA1C
WDFY3
NTNG1
CNOT3
UBR7
WASF1
SETD1A
MADD
NTNG2
H4C3
CCDC32
PALS1
KDM4B
ACTL6B
DLG4
DDX6
DPYSL5
MED27
HPDL
HS2ST1
GRIA4
MED13
TCF20
TCF7L2
JARID2
HUWE1
PTPN23
MAPK8IP3
BPTF
TANC2
EIF5A
EDEM3
ZNF699
H4C9
DOCK3
RLIM
ACTL6A
CLCN3
AGO2
KAT8
HTT
ATP2B1
PLXNA1
KMT2B
PCDHGC4
CPSF3
WARS1
PSMD12
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Early-onset severe obesity (44 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY3 100.00 0 only for coding exons and intronic borders +/-14pb
    ALMS1 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS1 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS2 100.00 0 only for coding exons and intronic borders +/-14pb
    ARL6 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS4 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS5 100.00 0 only for coding exons and intronic borders +/-14pb
    MKKS 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS7 100.00 0 only for coding exons and intronic borders +/-14pb
    TTC8 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS9 99.99 0 only for coding exons and intronic borders +/-14pb
    BBS10 100.00 0 only for coding exons and intronic borders +/-14pb
    TRIM32 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS12 100.00 0 only for coding exons and intronic borders +/-14pb
    MKS1 100.00 0 only for coding exons and intronic borders +/-14pb
    CEP290 99.99 0 only for coding exons and intronic borders +/-14pb
    WDPCP 100.00 0 only for coding exons and intronic borders +/-14pb
    SDCCAG8 100.00 0 only for coding exons and intronic borders +/-14pb
    LZTFL1 100.00 0 only for coding exons and intronic borders +/-14pb
    BBIP1 100.00 0 only for coding exons and intronic borders +/-14pb
    IFT27 100.00 0 only for coding exons and intronic borders +/-14pb
    BDNF 100.00 0 only for coding exons and intronic borders +/-14pb
    CREBBP 99.99 0 only for coding exons and intronic borders +/-14pb
    EP300 99.99 0 only for coding exons and intronic borders +/-14pb
    GNAS 99.34 0 only for coding exons and intronic borders +/-14pb
    INPP5E 97.02 0 only for coding exons and intronic borders +/-14pb
    LEP 100.00 1 only for coding exons and intronic borders +/-14pb
    LEPR 99.99 1 only for coding exons and intronic borders +/-14pb
    MAGEL2 99.54 0 only for coding exons and intronic borders +/-14pb
    MC3R 100.00 1 only for coding exons and intronic borders +/-14pb
    MC4R 100.00 1 only for coding exons and intronic borders +/-14pb
    MYT1L 100.00 0 only for coding exons and intronic borders +/-14pb
    NTRK2 100.00 0 only for coding exons and intronic borders +/-14pb
    PCSK1 99.99 0 only for coding exons and intronic borders +/-14pb
    PHF6 99.98 0 only for coding exons and intronic borders +/-14pb
    POMC 99.97 1 only for coding exons and intronic borders +/-14pb
    RAB23 100.00 0 only for coding exons and intronic borders +/-14pb
    SETD2 100.00 0 only for coding exons and intronic borders +/-14pb
    SH2B1 100.00 1 only for coding exons and intronic borders +/-14pb
    SIM1 100.00 1 only for coding exons and intronic borders +/-14pb
    TBX3 98.58 0 only for coding exons and intronic borders +/-14pb
    TUB 100.00 0 only for coding exons and intronic borders +/-14pb
    DYRK1B 99.94 0 only for coding exons and intronic borders +/-14pb
    MRAP2 100.00 0 only for coding exons and intronic borders +/-14pb