Disease Directory 2p21 microdeletion syndrome
Rare Disease

2p21 microdeletion syndrome

Type

Disease

Gene

SLC3A1, PREPL, CAMKMT, PPM1B

About 2p21 microdeletion syndrome

2p21 microdeletion syndrome is a rare disease catalogued by Orphanet (ORPHA:163693). It is associated with the SLC3A1, PREPL, CAMKMT 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 2p21 microdeletion syndrome trials.

Search ClinicalTrials.gov for "2p21 microdeletion syndrome" or filter by Orphanet code ORPHA:163693 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:163693)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting 2p21 microdeletion syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for 2p21 microdeletion syndrome. Updated daily.