"DOID:0080448"^^ . "disease_ontology"^^ . _:vb50940966 . "early infantile epileptic encephalopathy 48"^^ . "A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25."^^ . _:vb50940966 . . _:vb50940966 . "OMIM:617276"^^ . _:vb50940966 . . _:vb50940966 . . "DEE48"^^ . "developmental and epileptic encephalopathy 48"^^ . .