Disease Directory Congenital muscular dystrophy-cataract-intellectual disability syndrome
Neuromuscular

Congenital muscular dystrophy-cataract-intellectual disability syndrome

Type

Disease

Gene

INPP5K

About Congenital muscular dystrophy-cataract-intellectual disability syndrome

Congenital muscular dystrophy-cataract-intellectual disability syndrome is a rare disease catalogued by Orphanet (ORPHA:662184). It is associated with the INPP5K 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 Congenital muscular dystrophy-cataract-intellectual disability syndrome trials.

Search ClinicalTrials.gov for "Congenital muscular dystrophy-cataract-intellectual disability syndrome" or filter by Orphanet code ORPHA:662184 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:662184)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Congenital muscular dystrophy-cataract-intellectual disability syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Congenital muscular dystrophy-cataract-intellectual disability syndrome. Updated daily.