Disease Directory Koolen-De Vries syndrome due to a point mutation
Rare Disease

Koolen-De Vries syndrome due to a point mutation

Type

Etiological subtype

Gene

KANSL1

About Koolen-De Vries syndrome due to a point mutation

Koolen-De Vries syndrome due to a point mutation is a rare disease catalogued by Orphanet (ORPHA:363965). It is associated with the KANSL1 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 Koolen-De Vries syndrome due to a point mutation trials.

Search ClinicalTrials.gov for "Koolen-De Vries syndrome due to a point mutation" or filter by Orphanet code ORPHA:363965 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:363965)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Koolen-De Vries syndrome due to a point mutation trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Koolen-De Vries syndrome due to a point mutation. Updated daily.