Visualize Submit Comment

Metadata
ID	DOID:0080291
Name	developmental and epileptic encephalopathy 59
Definition	A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/25262651
Xrefs	MIM:617904
Synonyms	DEE59 [EXACT] early infantile epileptic encephalopathy 59 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease