Gordon Holmes syndrome (DOID:0111587)
Alliance: disease page
Synonyms: CAHH; cerebellar ataxia-hypogonadism syndrome; GDHS; LHRH deficiency and ataxia; luteinizing hormone-releasing hormone deficiency with ataxia
Alt IDs: OMIM:212840, MESH:C565870, ORDO:1173, UMLS_CUI:C1859305
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.