Disease Directory Multiple congenital anomalies-hypotonia-seizures syndrome
Neurological

Multiple congenital anomalies-hypotonia-seizures syndrome

Type

Malformation syndrome

Gene

PIGN

About Multiple congenital anomalies-hypotonia-seizures syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome is a rare disease catalogued by Orphanet (ORPHA:280633). It is associated with the PIGN 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 Multiple congenital anomalies-hypotonia-seizures syndrome trials.

Search ClinicalTrials.gov for "Multiple congenital anomalies-hypotonia-seizures syndrome" or filter by Orphanet code ORPHA:280633 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:280633)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Multiple congenital anomalies-hypotonia-seizures syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Multiple congenital anomalies-hypotonia-seizures syndrome. Updated daily.