Developmental and epileptic encephalopathy, 43

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.

Also known as DEE43, developmental and epileptic encephalopathy 43, early infantile epileptic encephalopathy caused by mutation in GABRB3, EIEE43, epileptic encephalopathy, early infantile, 43, epileptic encephalopathy, early infantile, 43; EIEE43, epileptic encephalopathy, early infantile, type 43, GABRB3 early infantile epileptic encephalopathy — per MONDO

Also identified as

• DOID 0080447 per MONDO
• OMIM 617113 per MONDO
• UMLS C4310712 per MONDO