Term Name: Gordon Holmes syndrome
Synonyms: CAHH, cerebellar ataxia-hypogonadism syndrome, GDHS, LHRH deficiency and ataxia, luteinizing hormone-releasing hormone deficiency with ataxia
Definition: An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1.
Ontology: Human Disease [DOID:0111587]   ( DOID:0111587 )

Relationships
is a type of: autosomal recessive disease inherited metabolic disorder