| Metadata | |
|---|---|
| ID | DOID:0080282 |
| Name | developmental and 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. https://www.ncbi.nlm.nih.gov/pubmed/28777935 |
| Xrefs | |
| Synonyms |
DEE56 [EXACT] early infantile epileptic encephalopathy 56 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |