Developmental and epileptic encephalopathy, 49

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.

Also known as DEE49, DENND5A early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 49, early infantile epileptic encephalopathy caused by mutation in DENND5A, EIEE49, epileptic encephalopathy, early infantile, 49, epileptic encephalopathy, early infantile, 49; EIEE49, epileptic encephalopathy, early infantile, type 49 — per MONDO

Also identified as

• DOID 0080441 per MONDO
• OMIM 617281 per MONDO
• UMLS C4310635 per MONDO