Disease Directory Diencephalic-mesencephalic junction dysplasia
Rare Disease

Diencephalic-mesencephalic junction dysplasia

Type

Morphological anomaly

Gene

GSX2, PCDH12

About Diencephalic-mesencephalic junction dysplasia

Diencephalic-mesencephalic junction dysplasia is a rare disease catalogued by Orphanet (ORPHA:319192). It is associated with the GSX2, PCDH12 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 Diencephalic-mesencephalic junction dysplasia trials.

Search ClinicalTrials.gov for "Diencephalic-mesencephalic junction dysplasia" or filter by Orphanet code ORPHA:319192 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:319192)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Diencephalic-mesencephalic junction dysplasia trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Diencephalic-mesencephalic junction dysplasia. Updated daily.