Disease Directory 17p13.3 microduplication syndrome
Rare Disease

17p13.3 microduplication syndrome

Type

Malformation syndrome

Gene

PAFAH1B1, YWHAE

About 17p13.3 microduplication syndrome

17p13.3 microduplication syndrome is a rare disease catalogued by Orphanet (ORPHA:217385). It is associated with the PAFAH1B1, YWHAE 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 17p13.3 microduplication syndrome trials.

Search ClinicalTrials.gov for "17p13.3 microduplication syndrome" or filter by Orphanet code ORPHA:217385 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:217385)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting 17p13.3 microduplication syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for 17p13.3 microduplication syndrome. Updated daily.