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Results 1 - 9 of 9 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. 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
  3. 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
  4. 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
  5. 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
  6. About Genetics and Hearing Loss (Centers for Disease Control and Prevention)  
    Hearing Problems in Children/Genetics ... Hearing Problems in Children ... Centers for Disease Control and Prevention ... Genes influence a child's risk for having hearing ...
    https://www.cdc.gov/.../about-genetics-and-hearing-loss.html - External Health Links
  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. 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
  9. 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