Gordon Holmes syndrome

Term ID

DOID:0111587

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. (3)

References

• MESH:C565870
• OMIM:212840
• ORDO:1173
• SNOMEDCT_US_2023_03_01:230240004
• UMLS_CUI:C1859305

Ontology

Human Disease   ( DOID:0111587 )