Developmental and Epileptic Encephalopathy 44

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive subtype of developmental and epileptic encephalopathy caused by mutation(s) in the UBA5 gene, encoding ubiquitin-like modifier-activating enzyme 5.

**Synonyms:** - DEE44 - EIEE44 - Early Infantile Epileptic Encephalopathy 44