Disease Directory Deafness-enamel hypoplasia-nail defects syndrome
Rare Disease

Deafness-enamel hypoplasia-nail defects syndrome

Type

Malformation syndrome

Gene

PEX1, PEX6

About Deafness-enamel hypoplasia-nail defects syndrome

Deafness-enamel hypoplasia-nail defects syndrome is a rare disease catalogued by Orphanet (ORPHA:3220). It is associated with the PEX1, PEX6 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 Deafness-enamel hypoplasia-nail defects syndrome trials.

Search ClinicalTrials.gov for "Deafness-enamel hypoplasia-nail defects syndrome" or filter by Orphanet code ORPHA:3220 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:3220)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Deafness-enamel hypoplasia-nail defects syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Deafness-enamel hypoplasia-nail defects syndrome. Updated daily.