Disease Directory Oculocerebrofacial syndrome, Kaufman type
Rare Disease

Oculocerebrofacial syndrome, Kaufman type

Type

Malformation syndrome

Gene

UBE3B

About Oculocerebrofacial syndrome, Kaufman type

Oculocerebrofacial syndrome, Kaufman type is a rare disease catalogued by Orphanet (ORPHA:2707). It is associated with the UBE3B 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 Oculocerebrofacial syndrome, Kaufman type trials.

Search ClinicalTrials.gov for "Oculocerebrofacial syndrome, Kaufman type" or filter by Orphanet code ORPHA:2707 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:2707)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Oculocerebrofacial syndrome, Kaufman type trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Oculocerebrofacial syndrome, Kaufman type. Updated daily.