| Term Name: | developmental and epileptic encephalopathy 4 |
|---|---|
| Synonyms: | DEE4, early infantile epileptic encephalopathy 4 |
| Definition: | A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1. |
| Ontology: | Human Disease [DOID:0080436] ( DOID:0080436 ) |