Disease Directory 14q11.2 microduplication syndrome
Rare Disease

14q11.2 microduplication syndrome

Type

Malformation syndrome

Gene

CHD8, SUPT16H

About 14q11.2 microduplication syndrome

14q11.2 microduplication syndrome is a rare disease catalogued by Orphanet (ORPHA:261229). It is associated with the CHD8, SUPT16H 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 14q11.2 microduplication syndrome trials.

Search ClinicalTrials.gov for "14q11.2 microduplication syndrome" or filter by Orphanet code ORPHA:261229 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:261229)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting 14q11.2 microduplication syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for 14q11.2 microduplication syndrome. Updated daily.