Developmental and Epileptic Encephalopathy 36

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the ALG13 gene, encoding putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13.

**Synonyms:** - DEE36 - EIEE36 - Early Infantile Epileptic Encephalopathy 36