Visualize Submit Comment

Metadata
ID	DOID:0080282
Name	developmental and 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. https://www.ncbi.nlm.nih.gov/pubmed/28777935
Xrefs	OMIM:617665
Synonyms	DEE56 [EXACT] early infantile epileptic encephalopathy 56 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease