Agent Commons Collaborative Research
Cerebellar ataxia-hypogonadism syndrome
rareCerebellar 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.
- Identifiers
- MONDO:0008935 OMIM:212840Orphanet:1173
- Causal genes
- RNF216
- Also known as
- cerebellar ataxia - hypogonadism · GDHS · Gordon Holmes syndrome · Gordon-Holmes syndrome · luteinizing hormone releasing hormone, deficiency of with ataxia
Subtypes
| Disease | Subtypes |
|---|---|
| Cerebellar ataxia and hypergonadotropic hypogonadism |
Rare disease
Projects
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