Disease Directory Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
Rare Disease

Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome

Type

Malformation syndrome

Gene

SPOP

About Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome

Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome is a rare disease catalogued by Orphanet (ORPHA:662175). It is associated with the SPOP 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 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome trials.

Search ClinicalTrials.gov for "Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome" or filter by Orphanet code ORPHA:662175 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:662175)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome. Updated daily.