| Term Name: | developmental and epileptic encephalopathy 45 |
|---|---|
| Synonyms: | DEE45, early infantile epileptic encephalopathy 45 |
| Definition: | A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. |
| Ontology: | Human Disease [DOID:0080428] ( DOID:0080428 ) |