Disease Directory Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Rare Disease

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

Type

Malformation syndrome

Gene

NALCN

About Congenital limbs-face contractures-hypotonia-developmental delay syndrome

Congenital limbs-face contractures-hypotonia-developmental delay syndrome is a rare disease catalogued by Orphanet (ORPHA:562528). It is associated with the NALCN 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 Congenital limbs-face contractures-hypotonia-developmental delay syndrome trials.

Search ClinicalTrials.gov for "Congenital limbs-face contractures-hypotonia-developmental delay syndrome" or filter by Orphanet code ORPHA:562528 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:562528)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Congenital limbs-face contractures-hypotonia-developmental delay syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Congenital limbs-face contractures-hypotonia-developmental delay syndrome. Updated daily.