Developmental and epileptic encephalopathy, 51

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.

Also known as DEE51, developmental and epileptic encephalopathy 51, early infantile epileptic encephalopathy caused by mutation in MDH2, EIEE51, epileptic encephalopathy, early infantile, 51, epileptic encephalopathy, early infantile, 51; EIEE51, epileptic encephalopathy, early infantile, type 51, MDH2 early infantile epileptic encephalopathy — per MONDO

Also identified as

• DOID 0080433 per MONDO
• OMIM 617339 per MONDO
• UMLS C4479208 per MONDO