| Intellectual Disability |
C3714756 |
AUTS2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
BCS1L
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
BPTF
|
Causal
Pathogenic evidence from ClinVar
|
28942966 |
ClinVar |
|
BRCA2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
BRPF1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
BRWD3
|
Causal
Pathogenic evidence from ClinVar
|
28475857 |
ClinVar |
|
C12orf4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CACNA1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CAMK2A
|
Causal
Pathogenic evidence from ClinVar
|
29100089, 29560374 |
ClinVar |
|
CAMK2B
|
Causal
Pathogenic evidence from ClinVar
|
29560374 |
ClinVar |
|
CASK
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CBS
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CDKL5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CERT1
|
Causal
Pathogenic evidence from ClinVar
|
25533962 |
ClinVar |
|
CHAMP1
|
Causal
Pathogenic evidence from ClinVar
|
26340335 |
ClinVar |
|
CHD2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHD3
|
Causal
Pathogenic evidence from ClinVar
|
29463886 |
ClinVar |
|
CIC
|
Causal
Pathogenic evidence from ClinVar
|
21076407, 28288114 |
ClinVar |
|
CLTC
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 |
C4014435 |
AUTS2
|
Causal
Pathogenic evidence from ClinVar
|
23332918 |
ClinVar |
| Severe intellectual disability |
C0036857 |
BCS1L
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
C12orf4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CAMK2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CAMK2G
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CLCN4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Mild Mental Retardation |
C0026106 |
BPTF
|
Causal
Pathogenic evidence from ClinVar
|
28942966 |
ClinVar |
|
BRWD3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
C12orf4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CACNA1A
|
Causal
Pathogenic evidence from ClinVar
|
25735478 |
ClinVar |
|
CLCN4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Moderate intellectual disability |
C0026351 |
BPTF
|
Causal
Pathogenic evidence from ClinVar
|
28942966 |
ClinVar |
|
C12orf4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CACNA1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CASK
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHD2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CLCN4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Mental Retardation, X-Linked |
C1136249 |
BRWD3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CASK
|
Causal
Pathogenic evidence from ClinVar
|
19165920, 19377476 |
ClinVar |
| MENTAL RETARDATION, X-LINKED 93 (disorder) |
C1970841 |
BRWD3
|
Causal
Pathogenic evidence from ClinVar
|
17668385, 28475857 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 |
C4748732 |
C12orf4
|
Causal
Pathogenic evidence from ClinVar
|
25558065, 27311568, 28097321 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 |
C4540481 |
CAMK2A
|
Causal
Pathogenic evidence from ClinVar
|
25533962, 28130356, 29100089, 29560374 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 |
C4748167 |
CAMK2A
|
Causal
Pathogenic evidence from ClinVar
|
29784083 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 |
C4540484 |
CAMK2B
|
Causal
Pathogenic evidence from ClinVar
|
29100089, 29560374 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 |
C4225156 |
CERT1
|
Causal
Pathogenic evidence from ClinVar
|
25356899, 25533962 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 |
C4225275 |
CHAMP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Mental deficiency |
C0917816 |
CIC
|
Causal
Pathogenic evidence from ClinVar
|
21076407, 28288114 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 |
C4539848 |
CIC
|
Causal
Pathogenic evidence from ClinVar
|
21076407, 24896178, 28288114 |
ClinVar |
| Profound Mental Retardation |
C0020796 |
CIC
|
Causal
Pathogenic evidence from ClinVar
|
21076407, 28288114 |
ClinVar |
| MENTAL RETARDATION, X-LINKED 15 |
C0796221 |
CLCN4
|
Causal
Pathogenic evidence from ClinVar
|
23647072, 25644381 |
ClinVar |
| Mental Retardation, X-Linked Nonsyndromic |
C3501611 |
CLCN4
|
Causal
Pathogenic evidence from ClinVar
|
23647072, 25644381, 27550844 |
ClinVar |
