developmental and epileptic encephalopathy 43 (DOID:0080447)
Alliance: disease page
Synonyms: DEE43; early infantile epileptic encephalopathy 43
Alt IDs: OMIM:617113
Definition: A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11.