Term Name:	developmental and epileptic encephalopathy 48
Synonyms:	DEE48, early infantile epileptic encephalopathy 48
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.
Ontology:	Human Disease [DOID:0080448]   ( DOID:0080448 )