Developmental and epileptic encephalopathy, 48

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.

Also known as AP3B2 early infantile epileptic encephalopathy, DEE48, developmental and epileptic encephalopathy 48, early infantile epileptic encephalopathy caused by mutation in AP3B2, EIEE48, epileptic encephalopathy, early infantile, 48, epileptic encephalopathy, early infantile, 48; EIEE48, epileptic encephalopathy, early infantile, type 48 — per MONDO

Also identified as

• DOID 0080448 per MONDO
• OMIM 617276 per MONDO
• UMLS C4310637 per MONDO