| Metadata | |
|---|---|
| ID | DOID:0080291 |
| Name | developmental and epileptic encephalopathy 59 |
| Definition | A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/25262651 |
| Xrefs | |
| Synonyms |
DEE59 [EXACT] early infantile epileptic encephalopathy 59 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |