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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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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

  1. Knobloch syndrome. Orphanet. September 2008; Accessed 4/5/2010.