Disease Directory Blepharophimosis-intellectual disability syndrome, SBBYS type
Rare Disease

Blepharophimosis-intellectual disability syndrome, SBBYS type

Type

Malformation syndrome

Gene

KAT6B

About Blepharophimosis-intellectual disability syndrome, SBBYS type

Blepharophimosis-intellectual disability syndrome, SBBYS type is a rare disease catalogued by Orphanet (ORPHA:3047). It is associated with the KAT6B 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 Blepharophimosis-intellectual disability syndrome, SBBYS type trials.

Search ClinicalTrials.gov for "Blepharophimosis-intellectual disability syndrome, SBBYS type" or filter by Orphanet code ORPHA:3047 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:3047)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Blepharophimosis-intellectual disability syndrome, SBBYS type trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Blepharophimosis-intellectual disability syndrome, SBBYS type. Updated daily.