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Genetic and Rare Diseases Information Center (GARD)

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Norrie disease

Other Names for this Disease
  • Anderson-Warburg syndrome
  • Atrophia bulborum hereditaria
  • Episkopi blindness
  • Fetal iritis syndrome
  • NDP
More Names
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Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth.[1] Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Some affected individuals may develop hearing loss and exhibit cognitive abnormalities such as developmental delays or behavioral issues.[2] Mutations in the NDP gene cause Norrie disease. It is inherited in an X-linked recessive pattern.[1][2]
Last updated: 2/15/2010


  1. Norrie disease. Genetics Home Reference (GHR). 2007; Accessed 2/15/2010.
  2. Sims KB. Norrie Disease. National Organization for Rare Disorders (NORD). 2008; Accessed 2/15/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Norrie disease. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • 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 Norrie disease. Click on the link to view a sample search on this topic.