Disease Directory Semilobar holoprosencephaly
Rare Disease

Semilobar holoprosencephaly

Type

Clinical subtype

Gene

STAG2, FGFR1, SMC1A, STIL, PTCH1, SHH

About Semilobar holoprosencephaly

Semilobar holoprosencephaly is a rare disease catalogued by Orphanet (ORPHA:220386). It is associated with the STAG2, FGFR1, SMC1A 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 Semilobar holoprosencephaly trials.

Search ClinicalTrials.gov for "Semilobar holoprosencephaly" or filter by Orphanet code ORPHA:220386 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:220386)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Semilobar holoprosencephaly trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Semilobar holoprosencephaly. Updated daily.