Disease Directory 5q35 microduplication syndrome
Rare Disease

5q35 microduplication syndrome

Type

Malformation syndrome

Gene

NSD1

About 5q35 microduplication syndrome

5q35 microduplication syndrome is a rare disease catalogued by Orphanet (ORPHA:228415). It is associated with the NSD1 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 5q35 microduplication syndrome trials.

Search ClinicalTrials.gov for "5q35 microduplication syndrome" or filter by Orphanet code ORPHA:228415 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:228415)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting 5q35 microduplication syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for 5q35 microduplication syndrome. Updated daily.