Disease Directory Autosomal recessive chorioretinopathy-microcephaly syndrome
Rare Disease

Autosomal recessive chorioretinopathy-microcephaly syndrome

Type

Malformation syndrome

Gene

PLK4, TUBGCP6, TUBGCP4

About Autosomal recessive chorioretinopathy-microcephaly syndrome

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare disease catalogued by Orphanet (ORPHA:2518). It is associated with the PLK4, TUBGCP6, TUBGCP4 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 Autosomal recessive chorioretinopathy-microcephaly syndrome trials.

Search ClinicalTrials.gov for "Autosomal recessive chorioretinopathy-microcephaly syndrome" or filter by Orphanet code ORPHA:2518 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:2518)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Autosomal recessive chorioretinopathy-microcephaly syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Autosomal recessive chorioretinopathy-microcephaly syndrome. Updated daily.