Conditions / Genetic
Gordon Holmes syndrome
info · Genetic
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 mut
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.
Signs and symptoms
- Ataxia
- Cerebellar atrophy
- Cerebral atrophy
- Dysarthria
- Dementia
- Secondary amenorrhea
- Absence of pubertal development
- Oligomenorrhea
- Chorea
- Primary amenorrhea
Also known as: CAHH; GDHS; LHRH deficiency and ataxia; cerebellar ataxia-hypogonadism syndrome; luteinizing hormone-releasing hormone deficiency with ataxia