Developmental and epileptic encephalopathy, 34

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.

Also known as DEE34, developmental and epileptic encephalopathy 34, early infantile epileptic encephalopathy caused by mutation in SLC12A5, EIEE34, epileptic encephalopathy, early infantile, 34, epileptic encephalopathy, early infantile, 34; EIEE34, epileptic encephalopathy, early infantile, type 34, SLC12A5 early infantile epileptic encephalopathy — per MONDO

Also identified as

• DOID 0080460 per MONDO
• OMIM 616645 per MONDO
• UMLS C4225257 per MONDO