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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Knobloch syndrome


Other Names for this Disease

  • Myopia retinal detachment encephalocele
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Inheritance

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How is Knoblch syndrome inherited?

Knobloch syndrome has an autosomal recessive pattern of inheritance, which means that both copies of the gene in each cell have mutations.[1] The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition. Autosomal recessive disorders are typically not seen in every generation of an affected family.
Last updated: 4/5/2010

References
  1. Knobloch syndrome. Orphanet. September 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1571. Accessed 4/5/2010.


Other Names for this Disease
  • Myopia retinal detachment encephalocele
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.