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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Nijmegen breakage syndrome


Other Names for this Disease
  • Ataxia-Telangiectasia variant V1
  • Berlin Breakage syndrome
  • Microcephaly immunodeficiency lymphoreticuloma
  • Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies
  • Nonsyndromal microcephaly autosomal recessive with normal intelligence
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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.