Intellectual disability

Disease Term Disease ID Gene Symbol Classification References Source
SEVERE INTELLECTUAL DISABILITY
C0036857
PRMT7 Unknown — Disgenet
RAB3GAP1 Unknown — Disgenet
SCN8A Unknown — Disgenet
STXBP1 Unknown — Disgenet
TMEM67 Unknown — Disgenet
TPO Unknown — Disgenet
SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA
280763C4755264
AP4B1 Unknown
21620353 22290197
Disgenet Orphanet
AP4E1 Unknown
20972249 21620353
Disgenet Orphanet
AP4M1 Unknown
19559397
Disgenet Orphanet
AP4S1 Unknown
21620353
Disgenet Orphanet
SEVERE INTELLECTUAL DISABILITY, AGENESIS OF CORPUS CALLOSUM, FACIAL DYSMORPHISM, CEREBELLAR ATAXIA SYNDROME
C4225193
FRMD4A Unknown — Disgenet
PRPF18 Unknown — Disgenet
SEVERE INTELLECTUAL DISABILITY, HYPOTONIA, STRABISMUS, COARSE FACE, PLANOVALGUS SYNDROME
C5681179
P4HTM Unknown — Disgenet
SEVERE INTELLECTUAL DISABILITY, POOR LANGUAGE, STRABISMUS, GRIMACING FACE, LONG FINGERS SYNDROME
C4750954
GATAD2B Unknown — Disgenet
SEVERE INTELLECTUAL DISABILITY, PROGRESSIVE SPASTIC DIPLEGIA SYNDROME
C5190576
CTNNB1 Unknown — Disgenet
SEVERE INTELLECTUAL DISABILITY, SHORT STATURE, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM SYNDROME
C4750851
TTI2 Unknown — Disgenet
SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME
466688MONDO:0014787
FRMD4A Causal
25388005 30214071 34869127
ClinVar GenCC Orphanet
SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME
363686MONDO:0014034
GATAD2B Causal
23644463 31949314 28077840 30346093 30482549 31205050 32688057 34470925
CTD ClinGen ClinVar Orphanet
SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE POSTNATAL MICROCEPHALY- MIDLINE STEREOTYPIC HAND MOVEMENTS SYNDROME
MONDO:0018347
IQSEC2 Unknown
23674175
-
SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE POSTNATAL MICROCEPHALY-MIDLINE STEREOTYPIC HAND MOVEMENTS SYNDROME
397933
IQSEC2 Unknown
23674175
Orphanet
SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE SPASTIC DIPLEGIA SYNDROME
MONDO:0014035
CTNNB1 Causal
30929091 28514307 27915094 26968164 25326669 24614104 35880249
ClinVar GWAS catalog
SEVERE INTELLECTUAL DISABILITY-SHORT STATURE-BEHAVIORAL ABNORMALITIES-FACIAL DYSMORPHISM SYNDROME
391307MONDO:0014238
TTI2 Causal
17120046 21937992 23956177 31290144 31737043
ClinVar Disgenet Orphanet