Term Name: | developmental and epileptic encephalopathy 56 |
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Synonyms: | DEE56, early infantile 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. |
Ontology: | Human Disease [DOID:0080282] ( DOID:0080282 ) |