Developmental and epileptic encephalopathy, 1

Definition

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

Also known as ARX early infantile epileptic encephalopathy, DEE1, developmental and epileptic encephalopathy 1, X-linked recessive, early infantile epileptic encephalopathy caused by mutation in ARX, EIEE1, epileptic encephalopathy, early infantile, 1, epileptic encephalopathy, early infantile, type 1 — per MONDO

Also identified as

• DOID 0080468 per MONDO
• OMIM 308350 per MONDO
• UMLS C3463992 per MONDO