| Term Name: | developmental and epileptic encephalopathy 40 |
|---|---|
| Synonyms: | DEE40, early infantile epileptic encephalopathy 40 |
| Definition: | A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. |
| Ontology: | Human Disease [DOID:0080427] ( DOID:0080427 ) |