Disease Directory 22q11.2 deletion syndrome
Rare Disease

22q11.2 deletion syndrome

Type

Malformation syndrome

Gene

TBX1, ARVCF, GP1BB, UFD1, HIRA, COMT

About 22q11.2 deletion syndrome

22q11.2 deletion syndrome is a rare disease catalogued by Orphanet (ORPHA:567). It is associated with the TBX1, ARVCF, GP1BB 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 22q11.2 deletion syndrome trials.

Search ClinicalTrials.gov for "22q11.2 deletion syndrome" or filter by Orphanet code ORPHA:567 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:567)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting 22q11.2 deletion syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for 22q11.2 deletion syndrome. Updated daily.