Disease Directory Hypomyelination neuropathy-arthrogryposis syndrome
Rare Disease

Hypomyelination neuropathy-arthrogryposis syndrome

Type

Malformation syndrome

Gene

CNTNAP1, ADCY6, LGI4

About Hypomyelination neuropathy-arthrogryposis syndrome

Hypomyelination neuropathy-arthrogryposis syndrome is a rare disease catalogued by Orphanet (ORPHA:2680). It is associated with the CNTNAP1, ADCY6, LGI4 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 Hypomyelination neuropathy-arthrogryposis syndrome trials.

Search ClinicalTrials.gov for "Hypomyelination neuropathy-arthrogryposis syndrome" or filter by Orphanet code ORPHA:2680 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:2680)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Hypomyelination neuropathy-arthrogryposis syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Hypomyelination neuropathy-arthrogryposis syndrome. Updated daily.