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Results 1 - 10 of 11 for Autosomal recessive nonsyndromic hearing loss 23
  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 ... for hearing.The most common cause of moderate autosomal recessive nonsyndromic hearing loss is mutations in the STRC gene. These mutations ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  2. 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
  3. GJB3 gene 
    ... pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. ... Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371- ...
    https://medlineplus.gov/genetics/gene/gjb3 - Genetics
  4. COL11A2 gene 
    ... Smith RJ. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet. ... disorder otospondylomegaepiphyseal dysplasia is associated with loss-of- ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  5. STRC gene 
    ... j.jmoldx.2014.06.003. Epub 2014 Aug 23. Citation on PubMed Nishio SY, ... AE. STRC-Related Autosomal Recessive Hearing Loss. 2023 Dec 14. In: Adam MP, ...
    https://medlineplus.gov/genetics/gene/strc - Genetics
  6. 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
  7. Retinitis pigmentosa 
    ... nonsyndromic. Researchers have identified several major types of nonsyndromic retinitis pigmentosa, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked.Less commonly, retinitis pigmentosa occurs ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  8. Deafness-infertility syndrome 
    ... that get interpreted as sound, is responsible for hearing loss. The loss of another gene, CATSPER2, which plays a role in sperm motility, ... syndrome is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 ...
    https://medlineplus.gov/.../condition/deafness-infertility-syndrome - Genetics
  9. SLC26A4 gene 
    The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics
  10. Pendred syndrome 
    ... and symptoms. These conditions include a form of nonsyndromic hearing loss (hearing loss that does not affect other parts ... condition. SLC26A4 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/pendred-syndrome - Genetics
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