Disease Directory Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Neuromuscular

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Type

Malformation syndrome

Gene

ZBTB20

About Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare disease catalogued by Orphanet (ORPHA:3042). It is associated with the ZBTB20 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 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome trials.

Search ClinicalTrials.gov for "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome" or filter by Orphanet code ORPHA:3042 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:3042)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Intellectual disability-cataracts-calcified pinnae-myopathy syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Intellectual disability-cataracts-calcified pinnae-myopathy syndrome. Updated daily.