Disease Directory Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome
Ophthalmological

Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome

Type

Malformation syndrome

Gene

BRPF1

About Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome

Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome is a rare disease catalogued by Orphanet (ORPHA:698090). It is associated with the BRPF1 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 Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome trials.

Search ClinicalTrials.gov for "Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome" or filter by Orphanet code ORPHA:698090 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:698090)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome. Updated daily.