Developmental and epileptic encephalopathy, 38

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.

Also known as ARV1 early infantile epileptic encephalopathy, DEE38, developmental and epileptic encephalopathy 38, early infantile epileptic encephalopathy caused by mutation in ARV1, EIEE38, epileptic encephalopathy, early infantile, 38, epileptic encephalopathy, early infantile, 38; EIEE38, epileptic encephalopathy, early infantile, type 38 — per MONDO

Also identified as

• DOID 0080417 per MONDO
• OMIM 617020 per MONDO
• UMLS C4310762 per MONDO