Neurodevelopmental disorder with hypotonia, seizures, and absent language
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE | C4310643 | HECW2 | Causal Pathogenic evidence from ClinVar | 27334371, 27389779 | ClinVar |