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Results 1 - 3 of 3 for "Deafness," autosomal recessive 68
  1. CDH23 gene 
    ... TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001 Jan;68(1):26-37. doi: 10.1086/316954. Epub ...
    https://medlineplus.gov/genetics/gene/cdh23 - Genetics
  2. Cockayne syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. CS Dwarfism-retinal atrophy-deafness syndrome Genetic Testing Registry: Cockayne syndrome Cockayne syndrome ...
    https://medlineplus.gov/genetics/condition/cockayne-syndrome - Genetics
  3. Craniometaphyseal dysplasia 
    ... They are known as the autosomal dominant and autosomal recessive types. Craniometaphyseal dysplasia is a very rare disorder; ... in the GJA1 gene causes some cases of autosomal recessive craniometaphyseal dysplasia. This gene provides instructions for making ...
    https://medlineplus.gov/.../condition/craniometaphyseal-dysplasia - Genetics