| Intellectual Disability |
C3714756 |
RAI1
|
Causal
Pathogenic evidence from ClinVar
|
19752160 |
ClinVar |
|
RALA
|
Causal
Pathogenic evidence from ClinVar
|
30500825 |
ClinVar |
|
RARB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RPS6KA3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RUSC2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SATB2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SBDS
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
28191889 |
ClinVar |
|
SCN2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SET
|
Causal
Pathogenic evidence from ClinVar
|
28135719 |
ClinVar |
|
SETBP1
|
Causal
Pathogenic evidence from ClinVar
|
20436468, 25217958 |
ClinVar |
|
SETD5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SHANK3
|
Causal
Pathogenic evidence from ClinVar
|
16284256 |
ClinVar |
|
SIN3A
|
Causal
Pathogenic evidence from ClinVar
|
27399968 |
ClinVar |
|
SLC2A1
|
Causal
Pathogenic evidence from ClinVar
|
21937992, 27604308 |
ClinVar |
| Mental deficiency |
C0917816 |
RAI1
|
Causal
Pathogenic evidence from ClinVar
|
19752160 |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
28191889 |
ClinVar |
|
SETBP1
|
Causal
Pathogenic evidence from ClinVar
|
20436468, 25217958 |
ClinVar |
|
SHANK3
|
Causal
Pathogenic evidence from ClinVar
|
16284256 |
ClinVar |
|
SIN3A
|
Causal
Pathogenic evidence from ClinVar
|
27399968 |
ClinVar |
|
SLC2A1
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
| Mental Retardation |
C0025362 |
RAI1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SHANK3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SLC16A2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SLC2A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Mild Mental Retardation |
C0026106 |
RAI1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SBDS
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SIN3A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SLC2A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Profound Mental Retardation |
C0020796 |
RAI1
|
Causal
Pathogenic evidence from ClinVar
|
19752160 |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
28191889 |
ClinVar |
|
SETBP1
|
Causal
Pathogenic evidence from ClinVar
|
20436468, 25217958 |
ClinVar |
|
SHANK3
|
Causal
Pathogenic evidence from ClinVar
|
16284256 |
ClinVar |
|
SIN3A
|
Causal
Pathogenic evidence from ClinVar
|
27399968 |
ClinVar |
| Moderate intellectual disability |
C0026351 |
RALA
|
Causal
Pathogenic evidence from ClinVar
|
30500825 |
ClinVar |
|
RPS6KA3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SATB2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SCN2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SHANK3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Severe intellectual disability |
C0036857 |
RPS6KA3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SATB2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SETD5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SLC16A2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 |
C4540424 |
RUSC2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 |
C4748195 |
SET
|
Causal
Pathogenic evidence from ClinVar
|
25356899, 28135719, 29688601 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 |
C4015141 |
SETBP1
|
Causal
Pathogenic evidence from ClinVar
|
20436468, 25217958, 25663181, 25852444, 28346496 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 |
C3810406 |
SETD5
|
Causal
Pathogenic evidence from ClinVar
|
24680889, 25138099, 27375234, 28549204, 29484850 |
ClinVar |
| SIN3A-related intellectual disability syndrome due to a point mutation |
500166 |
SIN3A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
