cerebellar ataxia-hypogonadism syndrome
Findings
No curated finding names cerebellar ataxia-hypogonadism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008935), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal electroretinogramHPOHP:0000512
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Abnormality of the hypothalamus-pituitary axisHPOHP:0000864
- Very frequent (80% to 99% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RNF216HGNC:21698
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
- PNPLA6HGNC:16268
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (1)
Other names
2 names
Resolves to: cerebellar ataxia-hypogonadism syndrome
- Also called
- Gordon-Holmes syndromeluteinizing hormone-releasing hormone deficiency with ataxia