Developmental and epileptic encephalopathy, 47

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.

Also known as DEE47, developmental and epileptic encephalopathy 47, early infantile epileptic encephalopathy caused by mutation in FGF12, EIEE47, epileptic encephalopathy, early infantile, 47, epileptic encephalopathy, early infantile, 47; EIEE47, epileptic encephalopathy, early infantile, type 47, FGF12 early infantile epileptic encephalopathy — per MONDO

Also identified as

• DOID 0080425 per MONDO
• OMIM 617166 per MONDO
• UMLS C4310685 per MONDO