| Term Name: | developmental and epileptic encephalopathy 56 |
|---|---|
| Synonyms: | DEE56, early infantile epileptic encephalopathy 56 |
| Definition: | A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11. |
| Ontology: | Human Disease [DOID:0080282] ( DOID:0080282 ) |