Term Name: | developmental and epileptic encephalopathy 4 |
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Synonyms: | DEE4, early infantile epileptic encephalopathy 4 |
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. |
Ontology: | Human Disease [DOID:0080436] ( DOID:0080436 ) |