| MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 |
C3275508 |
PIGA
|
Causal
Pathogenic evidence from ClinVar
|
22305531, 22514539, 24259184, 24259288, 24706016, 25885527, 26993267, 27604308, 29656098 |
ClinVar |
| Multiple congenital anomalies-hypotonia-seizures syndrome type 2 |
300496 |
PIGA
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Multiple congenital anomalies-hypotonia-seizures syndrome |
280633 |
PIGN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 |
C3279775 |
PIGN
|
Causal
Pathogenic evidence from ClinVar
|
21493957, 24253414, 26394714, 26419326, 26879448, 27038415, 27604308, 28327575 |
ClinVar |
| MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 |
C3809356 |
PIGT
|
Causal
Pathogenic evidence from ClinVar
|
23636107, 23733340, 24906948, 25943031, 28327575 |
ClinVar |
