Developmental and epileptic encephalopathy, 40

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.

Also known as DEE40, developmental and epileptic encephalopathy 40, early infantile epileptic encephalopathy caused by mutation in GUF1, EIEE40, epileptic encephalopathy, early infantile, 40, epileptic encephalopathy, early infantile, 40; EIEE40, epileptic encephalopathy, early infantile, type 40, GUF1 early infantile epileptic encephalopathy — per MONDO

Also identified as

• DOID 0080427 per MONDO
• OMIM 617065 per MONDO
• UMLS C4310737 per MONDO