Developmental and Epileptic Encephalopathy 50

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the CAD gene, encoding CAD protein.

**Synonyms:** - CDG1Z - Congenital Disorder of Glycosylation Type Iz - DEE50 - EIEE50 - Early Infantile Epileptic Encephalopathy 50