Disease Directory Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Ophthalmological

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Type

Malformation syndrome

Gene

MAB21L2

About Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare disease catalogued by Orphanet (ORPHA:424099). It is associated with the MAB21L2 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 Colobomatous microphthalmia-rhizomelic dysplasia syndrome trials.

Search ClinicalTrials.gov for "Colobomatous microphthalmia-rhizomelic dysplasia syndrome" or filter by Orphanet code ORPHA:424099 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:424099)

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NORD

National Organization for Rare Disorders

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Find recruiting Colobomatous microphthalmia-rhizomelic dysplasia syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Colobomatous microphthalmia-rhizomelic dysplasia syndrome. Updated daily.