Developmental and epileptic encephalopathy, 44

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.

Also known as DEE44, developmental and epileptic encephalopathy 44, early infantile epileptic encephalopathy caused by mutation in UBA5, EIEE44, epileptic encephalopathy, early infantile, 44, epileptic encephalopathy, early infantile, 44; EIEE44, epileptic encephalopathy, early infantile, type 44, UBA5 early infantile epileptic encephalopathy — per MONDO

Also identified as

• DOID 0080424 per MONDO
• OMIM 617132 per MONDO
• UMLS C4310700 per MONDO