Developmental and Epileptic Encephalopathy 47 - CISMeF
Developmental and Epileptic Encephalopathy 47NCIt concept
Preferred Label : Developmental and Epileptic Encephalopathy 47;
NCIt synonyms : Epileptic Encephalopathy, Early Infantile, 47; EIEE47; DEE47;
NCIt definition : An autosomal dominant subtype of developmental and epileptic encephalopathy, caused
by mutation(s) in the FGF12 gene, encoding fibroblast growth factor 12.;