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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
More Names
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Overview


These Web pages are updated as the Genetic and Rare Diseases Information Center receives questions and as new information becomes available. If you don’t see many information resources on this page, it may be because the Information Center hasn’t yet received a question about this condition.

Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Nijmegen breakage syndrome. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on Nijmegen breakage syndrome. This website is maintained by the National Library of Medicine.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Nijmegen breakage syndrome. Click on the link to view a sample search on this topic.