C179296Level 10
Developmental and Epileptic Encephalopathy 76
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ACTL6B gene, encoding actin-like protein 6B.
**Synonyms:** - DEE76 - EIEE76 - Early Infantile Epileptic Encephalopathy 76
GET
/api/v1/systems/nci_thesaurus/nodes/C179296Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.