| Moderate intellectual disability |
C0026351 |
SLC2A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SMARCA2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SMC3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ST3GAL3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SYNGAP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Profound Mental Retardation |
C0020796 |
SLC2A1
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
STAG1
|
Causal
Pathogenic evidence from ClinVar
|
28191889 |
ClinVar |
|
SYNGAP1
|
Causal
Pathogenic evidence from ClinVar
|
21076407 |
ClinVar |
| Intellectual Disability |
C3714756 |
SLC6A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SLC6A8
|
Causal
Pathogenic evidence from ClinVar
|
27604308 |
ClinVar |
|
SMAD4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SMARCA2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SMARCA4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SMARCB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SMC3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SOX4
|
Causal
Pathogenic evidence from ClinVar
|
30661772 |
ClinVar |
|
SOX5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SPR
|
Causal
Pathogenic evidence from ClinVar
|
16650784 |
ClinVar |
|
SRCAP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ST3GAL3
|
Causal
Pathogenic evidence from ClinVar
|
31584066 |
ClinVar |
|
ST3GAL5
|
Causal
Pathogenic evidence from ClinVar
|
25529582 |
ClinVar |
|
STAG1
|
Causal
Pathogenic evidence from ClinVar
|
28191889 |
ClinVar |
|
STXBP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SYNGAP1
|
Causal
Pathogenic evidence from ClinVar
|
21076407 |
ClinVar |
| Mental Retardation, X-Linked |
C1136249 |
SLC6A8
|
Causal
Pathogenic evidence from ClinVar
|
18350323 |
ClinVar |
| Mental Retardation |
C0025362 |
SLC9A6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SYNGAP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Mental retardation X-linked, South African type |
C1846130 |
SLC9A6
|
Causal
Pathogenic evidence from ClinVar
|
18342287 |
ClinVar |
| Mental Retardation, X-Linked, Syndromic, Christianson Type |
C2678194 |
SLC9A6
|
Causal
Pathogenic evidence from ClinVar
|
18342287, 20395263, 21964919, 24035762, 25044251, 27256868, 29349289 |
ClinVar |
| Severe intellectual disability |
C0036857 |
SLC9A6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SMARCA2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SMC3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ST3GAL3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ST3GAL5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
STXBP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TAF13
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 |
C3281201 |
SMARCA2
|
Causal
Pathogenic evidence from ClinVar
|
22366787 |
ClinVar |
|
SMARCA4
|
Causal
Pathogenic evidence from ClinVar
|
20137775 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 |
C3553248 |
SMARCB1
|
Causal
Pathogenic evidence from ClinVar
|
22426308, 22726846, 23906836, 25168959, 26364901 |
ClinVar |
| Mild Mental Retardation |
C0026106 |
SMC3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ST3GAL3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TAF13
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 |
C1970200 |
ST3GAL3
|
Causal
Pathogenic evidence from ClinVar
|
17120046, 21907012 |
ClinVar |
| Mental deficiency |
C0917816 |
STAG1
|
Causal
Pathogenic evidence from ClinVar
|
28191889 |
ClinVar |
|
SYNGAP1
|
Causal
Pathogenic evidence from ClinVar
|
21076407 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 |
C4539951 |
STAG1
|
Causal
Pathogenic evidence from ClinVar
|
25529582, 28119487, 30158690 |
ClinVar |
| Borderline intellectual disability |
C0006009 |
SYNGAP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Mental Retardation, Autosomal Dominant 5 |
C2675473 |
SYNGAP1
|
Causal
Pathogenic evidence from ClinVar
|
19196676, 21076407, 21237447, 23141534, 23161826, 23708187, 25167861, 25356970, 25418537, 26795593, 26989088, 28554332 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 |
C1970199 |
SYNGAP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 |
C4479476 |
TAF13
|
Causal
Pathogenic evidence from ClinVar
|
28257693 |
ClinVar |
