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Results 1 - 10 of 11 for Autosomal recessive nonsyndromic hearing loss 5
  1. GJB3 gene 
    ... pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. ... deafness. Clin Genet. 2006 May;69(5):371-92. doi: 10.1111/j.1399-0004. ...
    https://medlineplus.gov/genetics/gene/gjb3 - Genetics
  2. GJB2 gene 
    ... Opin Otolaryngol Head Neck Surg. 2008 Oct;16(5):452-7. doi: ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  3. 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
  4. BSND gene 
    ... This Health Condition MedlinePlus Genetics provides information about Nonsyndromic hearing loss More About This ... PubMed BARTTIN CLCNK- ...
    https://medlineplus.gov/genetics/gene/bsnd - Genetics
  5. MYO7A gene 
    ... the inner ear.DFNB2 is inherited in an autosomal recessive pattern, which means both ... hearing loss developed retinitis pigmentosa (a vision disorder ...
    https://medlineplus.gov/genetics/gene/myo7a - Genetics
  6. TECTA gene 
    ... results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in ... recessive form of sensorineural pre-lingual non-syndromic deafness, ...
    https://medlineplus.gov/genetics/gene/tecta - Genetics
  7. 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
  8. COL11A2 gene 
    ... Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. Mol Genet Genomics. 2015 Aug;290(4): ... Najmabadi H, Smith RJ. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. J Med Genet. 2005 ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  9. 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
  10. Perrault syndrome 
    ... this gene affect peroxisome function or lead to hearing loss in affected males and females and ovarian abnormalities in females with Perrault ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
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