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