ataxia-hypogonadism-choroidal dystrophy syndrome
Findings
No curated finding names ataxia-hypogonadism-choroidal dystrophy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.
Definition from the Mondo Disease Ontology (MONDO:0008980), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
25 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.
- Cerebellar atrophyHPOHP:0001272
- 10 of 10 reported patients
- Decreased circulating follicle stimulating hormone concentrationHPOHP:0030341
- 1 of 1 reported patient
- Decreased circulating luteinizing hormone levelHPOHP:0030344
- 1 of 1 reported patient
- Decreased serum testosterone concentrationHPOHP:0040171
- 1 of 1 reported patient
- DysdiadochokinesisHPOHP:0002075
- 1 of 1 reported patient
- Hypogonadotropic hypogonadism
Genes
1 gene
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.
- PNPLA6HGNC:16268
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: ataxia-hypogonadism-choroidal dystrophy syndrome
- Also called
- BNHSBoucher-Neuhauser syndromeBoucher-Neuhäuser syndromeBoucher-Neuhchäuser syndromechorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadismspinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy