Term Name:	developmental and epileptic encephalopathy 83
Synonyms:	DEE83, early infantile epileptic encephalopathy 83
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.
Ontology:	Human Disease [DOID:0112218]   ( DOID:0112218 )