Term Name: developmental and epileptic encephalopathy 4
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 )

Relationships
is a type of: autosomal dominant disease developmental and epileptic encephalopathy