Disease Directory Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Neurological

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

Type

Malformation syndrome

Gene

PIK3R2, CCND2, AKT3

About Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is a rare disease catalogued by Orphanet (ORPHA:83473). It is associated with the PIK3R2, CCND2, AKT3 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 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome trials.

Search ClinicalTrials.gov for "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" or filter by Orphanet code ORPHA:83473 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:83473)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome. Updated daily.