Developmental and epileptic encephalopathy, 33

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.

Also known as DEE33, developmental and epileptic encephalopathy 33, early infantile epileptic encephalopathy caused by mutation in EEF1A2, EEF1A2 early infantile epileptic encephalopathy, EEF1A2-Related Neurodevelopmental Disorder, EIEE33, epileptic encephalopathy, early infantile, 33, epileptic encephalopathy, early infantile, type 33 — per MONDO

Also identified as

• DOID 0080463 per MONDO
• OMIM 616409 per MONDO
• UMLS C4225337 per MONDO