developmental and epileptic encephalopathy 4 (DOID:0080436)
Alliance: disease page
Synonyms: DEE4; early infantile epileptic encephalopathy 4
Alt IDs: OMIM:612164
Definition: A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.