Disease Directory Isolated exencephaly
Rare Disease

Isolated exencephaly

Type

Clinical subtype

Gene

VANGL2, MTHFR

About Isolated exencephaly

Isolated exencephaly is a rare disease catalogued by Orphanet (ORPHA:563612). It is associated with the VANGL2, MTHFR 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 Isolated exencephaly trials.

Search ClinicalTrials.gov for "Isolated exencephaly" or filter by Orphanet code ORPHA:563612 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

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:563612)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Isolated exencephaly trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Isolated exencephaly. Updated daily.