Human genes for Gordon Holmes syndrome
Gordon Holmes syndrome [DOID:0111587]
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 RNF216 on chromosome 7p22.1.
Synonyms: Gordon Holmes syndrome, DOID:0111587, Gordon Holmes disease, Gordon Holmes disorder, Gordon Holmes syndromes ...