. "early infantile epileptic encephalopathy 83"^^ . "disease_ontology"^^ . . "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 UGP2 on chromosome 2p15."^^ . _:vb50946308 . _:vb50946308 . _:vb50946308 . _:vb50946308 . . . "developmental and epileptic encephalopathy 83"^^ . "DOID:0112218"^^ . "DEE83"^^ . _:vb50946308 . "OMIM:618744"^^ .