Disease Directory Macrocephaly-intellectual disability-autism syndrome
Rare Disease

Macrocephaly-intellectual disability-autism syndrome

Type

Disease

Gene

PTEN, HEPACAM

About Macrocephaly-intellectual disability-autism syndrome

Macrocephaly-intellectual disability-autism syndrome is a rare disease catalogued by Orphanet (ORPHA:210548). It is associated with the PTEN, HEPACAM genes. 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-intellectual disability-autism syndrome trials.

Search ClinicalTrials.gov for "Macrocephaly-intellectual disability-autism syndrome" or filter by Orphanet code ORPHA:210548 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

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:210548)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Macrocephaly-intellectual disability-autism syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Macrocephaly-intellectual disability-autism syndrome. Updated daily.