Disease Directory Johanson-Blizzard syndrome
Rare Disease

Johanson-Blizzard syndrome

Type

Malformation syndrome

Gene

UBR1

About Johanson-Blizzard syndrome

Johanson-Blizzard syndrome is a rare disease catalogued by Orphanet (ORPHA:2315). It is associated with the UBR1 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 Johanson-Blizzard syndrome trials.

Search ClinicalTrials.gov for "Johanson-Blizzard syndrome" or filter by Orphanet code ORPHA:2315 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:2315)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Johanson-Blizzard syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Johanson-Blizzard syndrome. Updated daily.