Disease Directory Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Rare Disease

Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

Type

Disease

Gene

ERLIN2

About Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare disease catalogued by Orphanet (ORPHA:280384). It is associated with the ERLIN2 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 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome trials.

Search ClinicalTrials.gov for "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome" or filter by Orphanet code ORPHA:280384 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:280384)

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NORD

National Organization for Rare Disorders

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Find recruiting Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome. Updated daily.