Disease Directory SMARCA2-related blepharophimosis-intellectual disability syndrome
Rare Disease

SMARCA2-related blepharophimosis-intellectual disability syndrome

Type

Malformation syndrome

Gene

SMARCA2

About SMARCA2-related blepharophimosis-intellectual disability syndrome

SMARCA2-related blepharophimosis-intellectual disability syndrome is a rare disease catalogued by Orphanet (ORPHA:637013). It is associated with the SMARCA2 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 SMARCA2-related blepharophimosis-intellectual disability syndrome trials.

Search ClinicalTrials.gov for "SMARCA2-related blepharophimosis-intellectual disability syndrome" or filter by Orphanet code ORPHA:637013 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:637013)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting SMARCA2-related blepharophimosis-intellectual disability syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for SMARCA2-related blepharophimosis-intellectual disability syndrome. Updated daily.