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Results 1 - 5 of 5 for Autosomal recessive nonsyndromic hearing loss 26
  1. Nonsyndromic hearing loss 
    ... pattern. About half of all severe-to-profound autosomal recessive nonsyndromic hearing loss results from mutations in the GJB2 gene; these cases are designated DFNB1. The GJB2 gene provides instructions for making a protein called connexin 26, which is a member of the connexin protein ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  2. CDH23 gene 
    ... Friedman TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal ... features of hearing loss patients with CDH23 mutations: a large cohort study. ...
    https://medlineplus.gov/genetics/gene/cdh23 - Genetics
  3. GJB2 gene 
    ... accounts for about half of all cases of autosomal recessive nonsyndromic hearing loss. It is characterized by mild to profound hearing ... Smith RJH, Azaiez H, Booth K. GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul 20]. In: ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  4. Stickler syndrome 
    ... Van de Heyning P, Usami S. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet. 2006 Sep;79(3):449-57. doi: 10.1086/506478. Epub 2006 Jun 26. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  5. SLC26A4 gene 
    ... gene mutations have been identified in people with nonsyndromic hearing loss, which is loss of hearing that is not ... Mutations in this gene cause a form of nonsyndromic hearing loss called DFNB4. This form of hearing loss can ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics