has material basis in germline mutation in RNF216 cerebellar ataxia-hypogonadism syndrome https://www.malacards.org/card/gordon_holmes_syndrome OMIM:212840 Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome. GARD:0003314 luteinizing hormone releasing hormone, deficiency of with ataxia DOID:0111587 MESH:C565870 UMLS:C1859305 MEDGEN:349137 luteinizing hormone-releasing hormone deficiency with ataxia Gordon Holmes syndrome MONDO:0008935 cerebellar ataxia - hypogonadism GDHS Gordon-Holmes syndrome Orphanet:1173 congenital hypogonadotropic hypogonadism inherited neurodegenerative disorder hereditary ataxia