developmental and epileptic encephalopathy 83 (DOID:0112218)
Alliance: disease page
Synonyms: DEE83; early infantile epileptic encephalopathy 83
Alt IDs: OMIM:618744
Definition: A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15.