Disease Directory Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Neurological

Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

Type

Malformation syndrome

Gene

FRMD4A

About Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome is a rare disease catalogued by Orphanet (ORPHA:466688). It is associated with the FRMD4A 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 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome trials.

Search ClinicalTrials.gov for "Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome" or filter by Orphanet code ORPHA:466688 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:466688)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome. Updated daily.