Disease Directory X-linked myotubular myopathy-abnormal genitalia syndrome
Neuromuscular

X-linked myotubular myopathy-abnormal genitalia syndrome

Type

Disease

Gene

MAMLD1, MTM1

About X-linked myotubular myopathy-abnormal genitalia syndrome

X-linked myotubular myopathy-abnormal genitalia syndrome is a rare disease catalogued by Orphanet (ORPHA:456328). It is associated with the MAMLD1, MTM1 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 X-linked myotubular myopathy-abnormal genitalia syndrome trials.

Search ClinicalTrials.gov for "X-linked myotubular myopathy-abnormal genitalia syndrome" or filter by Orphanet code ORPHA:456328 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:456328)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting X-linked myotubular myopathy-abnormal genitalia syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for X-linked myotubular myopathy-abnormal genitalia syndrome. Updated daily.