Disease Directory Joubert syndrome with renal defect
Renal

Joubert syndrome with renal defect

Type

Malformation syndrome

Gene

NPHP1, RPGRIP1L, TMEM237

About Joubert syndrome with renal defect

Joubert syndrome with renal defect is a rare disease catalogued by Orphanet (ORPHA:220497). It is associated with the NPHP1, RPGRIP1L, TMEM237 genes. 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 Joubert syndrome with renal defect trials.

Search ClinicalTrials.gov for "Joubert syndrome with renal defect" or filter by Orphanet code ORPHA:220497 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:220497)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Joubert syndrome with renal defect trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Joubert syndrome with renal defect. Updated daily.