Disease Directory Coffin-Lowry syndrome
Rare Disease

Coffin-Lowry syndrome

Type

Malformation syndrome

Gene

RPS6KA3

About Coffin-Lowry syndrome

Coffin-Lowry syndrome is a rare disease catalogued by Orphanet (ORPHA:192). It is associated with the RPS6KA3 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 Coffin-Lowry syndrome trials.

Search ClinicalTrials.gov for "Coffin-Lowry syndrome" or filter by Orphanet code ORPHA:192 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:192)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Coffin-Lowry syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Coffin-Lowry syndrome. Updated daily.