developmental and epileptic encephalopathy 48 (DOID:0080448)
Alliance: disease page
Synonyms: DEE48; early infantile epileptic encephalopathy 48
Alt IDs: OMIM:617276
Definition: 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.