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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Joubert syndrome


Other Names for this Disease
  • Cerebellar vermis agenesis
  • Cerebellooculorenal syndrome 1
  • Cerebelloparenchymal disorder 4
  • CORS1
  • CPD4
More Names
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Treatment


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Joubert syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • The University of Washington's hindbrain malformation research program invites individuals with this condition to participate in their research program. Click on the link for more information on how to participate in their research study.