| Baraitser-Winter cerebrofrontofacial syndrome |
2995 |
ACTB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ACTG1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Fryns-Aftimos Syndrome |
C1853623 |
ACTB
|
Causal
Pathogenic evidence from ClinVar
|
22366783, 24896178 |
ClinVar |
|
ACTG1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation |
C1855722 |
ACTB
|
Causal
Pathogenic evidence from ClinVar
|
2505231, 10411937, 16685646, 22366783, 24896178, 25052316, 29788902 |
ClinVar |
|
ACTG1
|
Causal
Pathogenic evidence from ClinVar
|
22366783 |
ClinVar |
| BARAITSER-WINTER SYNDROME 2 |
C3281235 |
ACTG1
|
Causal
Pathogenic evidence from ClinVar
|
8941379, 22366783, 25052316, 26188271, 27240540 |
ClinVar |
