Hypotonia-seizures-encephalopathy syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | 438216 | PURA | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | 314655 | PURA | Causal Pathogenic evidence from ClinVar | - | ClinVar |