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Diseases

Genetic and Rare Diseases Information Center (GARD)

22q13.3 deletion syndrome


Other Names for this Disease
  • Phelan-McDermid syndrome
  • Deletion 22q13.3 syndrome
  • Chromosome 22q13.3 deletion syndrome
  • Monosomy 22q13
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Research

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied 22q13.3 deletion syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Patient Registry

Other Names for this Disease
  • Phelan-McDermid syndrome
  • Deletion 22q13.3 syndrome
  • Chromosome 22q13.3 deletion syndrome
  • Monosomy 22q13
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.