Term Name: | Gordon Holmes syndrome |
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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 ) |