Disease Directory Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
Rare Disease

Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency

Type

Disease

About Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency

Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency is a rare disease catalogued by Orphanet (ORPHA:329255). 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 worldwide.

Clinical Trial Eligibility Tips

What to know before applying to Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency trials.

Search ClinicalTrials.gov for "Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency" or Orphanet code ORPHA:329255 to find disease-specific recruiting studies.

Ask your specialist to refer you to an Orphanet-accredited Centre of Expertise for this condition.

Natural history studies and patient registries often open enrolment before drug trials — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

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Orphanet

European reference resource for rare diseases (ORPHA:329255)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency. Updated daily.