Disease Directory Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Neurological

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Type

Malformation syndrome

Gene

PIGA

About Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare disease catalogued by Orphanet (ORPHA:300496). It is associated with the PIGA 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 type 2 trials.

Search ClinicalTrials.gov for "Multiple congenital anomalies-hypotonia-seizures syndrome type 2" or filter by Orphanet code ORPHA:300496 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:300496)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Multiple congenital anomalies-hypotonia-seizures syndrome type 2 trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Multiple congenital anomalies-hypotonia-seizures syndrome type 2. Updated daily.