| Intellectual Disability |
C3714756 |
PAH
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PAK3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PAX3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PCDH19
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PGAP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PHF6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PHF8
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PLP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PMM2
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
PNKP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
POGZ
|
Causal
Pathogenic evidence from ClinVar
|
25533962 |
ClinVar |
|
PPP2R1A
|
Causal
Pathogenic evidence from ClinVar
|
25533962 |
ClinVar |
|
PQBP1
|
Causal
Pathogenic evidence from ClinVar
|
30244542 |
ClinVar |
|
PTEN
|
Causal
Pathogenic evidence from ClinVar
|
11496368, 14574156, 17427195, 18759867, 19265751 |
ClinVar |
|
PURA
|
Causal
Pathogenic evidence from ClinVar
|
25342064 |
ClinVar |
|
QRICH1
|
Causal
Pathogenic evidence from ClinVar
|
25529582 |
ClinVar |
|
RAC1
|
Causal
Pathogenic evidence from ClinVar
|
28886345 |
ClinVar |
| Severe intellectual disability |
C0036857 |
PAH
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PAK3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PCDH19
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PGAP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PHF6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PNKP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
POGZ
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Mental Retardation, X-Linked |
C1136249 |
PAK3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PCDH19
|
Causal
Pathogenic evidence from ClinVar
|
18469813 |
ClinVar |
|
PQBP1
|
Causal
Pathogenic evidence from ClinVar
|
14634649, 15024694 |
ClinVar |
| Mental Retardation, X-Linked 30 |
C0796237 |
PAK3
|
Causal
Pathogenic evidence from ClinVar
|
9731525, 10946356, 12884430 |
ClinVar |
| Moderate intellectual disability |
C0026351 |
PAK3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PCDH19
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PGAP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PMM2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PURA
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Mild Mental Retardation |
C0026106 |
PCDH19
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PGAP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PHF8
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
POGZ
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PTEN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
QRICH1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 |
C4014343 |
PGAP1
|
Causal
Pathogenic evidence from ClinVar
|
17711852, 26050939 |
ClinVar |
| Mental Retardation |
C0025362 |
PHF8
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PQBP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 |
C4310794 |
PIGG
|
Causal
Pathogenic evidence from ClinVar
|
28581210, 30914295 |
ClinVar |
| Mental deficiency |
C0917816 |
PMM2
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
PTEN
|
Causal
Pathogenic evidence from ClinVar
|
11496368, 14574156, 17427195, 18759867, 19265751 |
ClinVar |
| Profound Mental Retardation |
C0020796 |
PMM2
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
PTEN
|
Causal
Pathogenic evidence from ClinVar
|
11496368, 14574156, 17427195, 18759867, 19265751 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 |
C4225352 |
PPP2R1A
|
Causal
Pathogenic evidence from ClinVar
|
25533962, 26168268 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 |
C4015357 |
PURA
|
Causal
Pathogenic evidence from ClinVar
|
25342064, 25439098, 27148565, 29097605 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 |
C4540321 |
RAC1
|
Causal
Pathogenic evidence from ClinVar
|
28886345 |
ClinVar |
