Disease Directory 12p12.1 microdeletion syndrome
Rare Disease

12p12.1 microdeletion syndrome

Type

Clinical subtype

Gene

SOX5

About 12p12.1 microdeletion syndrome

12p12.1 microdeletion syndrome is a rare disease catalogued by Orphanet (ORPHA:313884). It is associated with the SOX5 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 12p12.1 microdeletion syndrome trials.

Search ClinicalTrials.gov for "12p12.1 microdeletion syndrome" or filter by Orphanet code ORPHA:313884 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

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:313884)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting 12p12.1 microdeletion syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for 12p12.1 microdeletion syndrome. Updated daily.