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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Koolen de Vries syndrome


Other Names for this Disease

  • 17q21.31 deletion syndrome
  • 17q21.31 microdeletion syndrome
  • Chromosome 17q21.31 microdeletion syndrome
  • Microdeletion 17q21.31 syndrome
  • Monosomy 17q21.31
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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

  • The 17q21.31 Research Project aims to better characterize the clinical spectrum of Koolen de Vries syndrome, to provide insights into the molecular effects of the 17q21.31 deletion and KANSL1 mutation, and to explore possibilities for treatment. These research studies are being conducted by investigators at the Department of Human Genetics, Radbound Univeristy Medical Center, Nijmegen, Netherlands and at the Department of Genome Sciences, University of Washington, Seattle, United States.
  • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.
Other Names for this Disease
  • 17q21.31 deletion syndrome
  • 17q21.31 microdeletion syndrome
  • Chromosome 17q21.31 microdeletion syndrome
  • Microdeletion 17q21.31 syndrome
  • Monosomy 17q21.31
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.