Term Name: developmental and epileptic encephalopathy 56
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 )

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