Disease Directory Ataxia-hypogonadism-choroidal dystrophy syndrome
Neurological

Ataxia-hypogonadism-choroidal dystrophy syndrome

Type

Disease

Gene

PNPLA6

About Ataxia-hypogonadism-choroidal dystrophy syndrome

Ataxia-hypogonadism-choroidal dystrophy syndrome is a rare disease catalogued by Orphanet (ORPHA:1180). It is associated with the PNPLA6 gene. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Ataxia-hypogonadism-choroidal dystrophy syndrome trials.

Search ClinicalTrials.gov for "Ataxia-hypogonadism-choroidal dystrophy syndrome" or filter by Orphanet code ORPHA:1180 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

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Orphanet

European reference resource for rare diseases (ORPHA:1180)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Ataxia-hypogonadism-choroidal dystrophy syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Ataxia-hypogonadism-choroidal dystrophy syndrome. Updated daily.