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Results 1 - 10 of 14 for Autosomal recessive nonsyndromic hearing loss 9
  1. Nonsyndromic hearing loss 
    ... Genetic Testing Registry: Hereditary hearing loss and deafness ... DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A DEAFNESS, AUTOSOMAL ...
    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. COL11A2 gene 
    ... Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. Mol Genet Genomics. 2015 Aug;290(4):1327-34. doi: 10.1007/s00438-015-0995-9. Epub 2015 Jan 30. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  4. TECTA gene 
    ... three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am J Med Genet A. 2007 Jul 15;143A(14):1623-9. doi: 10.1002/ajmg.a.31718. Citation on ...
    https://medlineplus.gov/genetics/gene/tecta - Genetics
  5. 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
  6. 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
  7. STRC gene 
    ... these structures respond to sound waves, resulting in hearing loss. The loss of another gene, CATSPER2, in the same region of chromosome 15 is responsible for infertility in affected males. More About This Health Condition deafness, autosomal recessive 16 DFNB16 STRC_HUMAN Tests of STRC PubMed ...
    https://medlineplus.gov/genetics/gene/strc - Genetics
  8. USH2A gene 
    ... TP, Berson EL. Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5532-9. doi: 10.1167/iovs.08-2009. Epub 2008 ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  9. 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
  10. 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
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