Gordon Holmes Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive neurodegenerative condition caused by mutation(s) in the RNF216 gene, encoding E3 ubiquitin-protein ligase RNF216. It is characterized by dementia and movement disorders. This phenotype is associated with hypogonadotropic hypogonadism.

**Synonyms:** - Cerebellar Ataxia-Hypogonadism Syndrome - GDHS