| Metadata | |
|---|---|
| ID | DOID:0080431 |
| Name | developmental and epileptic encephalopathy 19 |
| Definition | A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34. https://www.ncbi.nlm.nih.gov/pubmed/24623842 |
| Xrefs | |
| Synonyms |
DEE19 [EXACT] early infantile epileptic encephalopathy 19 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |