Disease Directory Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Neurological

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Type

Malformation syndrome

Gene

SNX14

About Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare disease catalogued by Orphanet (ORPHA:397709). It is associated with the SNX14 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 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome trials.

Search ClinicalTrials.gov for "Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome" or filter by Orphanet code ORPHA:397709 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:397709)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome. Updated daily.