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Results 1 - 10 of 13 for Autosomal dominant nonsyndromic hearing loss 9
  1. Nonsyndromic hearing loss 
    ... mutations is the most identified subtype of nonsyndromic autosomal dominant ... Curr Mol Med. 2009 Jun;9(5):546-64. doi: 10.2174/156652409788488775. Citation ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  2. TECTA gene 
    ... TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7):825-34. ... Genet A. 2007 Jul 15;143A(14):1623-9. doi: 10.1002/ajmg.a.31718. Citation on PubMed ... mid frequency hearing loss in a Spanish family. J Med Genet. 2001 ...
    https://medlineplus.gov/genetics/gene/tecta - Genetics
  3. COL11A2 gene 
    ... in this gene can cause two forms of nonsyndromic hearing loss: DFNA13 and DFNB53.DFNA13 is inherited in an autosomal dominant pattern, which means only one mutated copy of ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  4. MYO7A gene 
    ... gene are thought to cause two forms of nonsyndromic hearing loss: DFNA11 and DFNB2.DFNA11 is inherited in an autosomal dominant pattern, which means only one mutated copy of ...
    https://medlineplus.gov/genetics/gene/myo7a - Genetics
  5. GJB3 gene 
    ... Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing ... with nonsyndromic hearing loss. Biochim Biophys Acta. 2013 Jan;1832( ...
    https://medlineplus.gov/genetics/gene/gjb3 - Genetics
  6. Retinitis pigmentosa 
    ... Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa ... RG. Nonsyndromic Retinitis Pigmentosa Overview. 2000 Aug 4 [updated 2023 ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  7. 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
  8. Palmoplantar keratoderma with deafness 
    ... Prera E, Schild C, Aschendorff A, Arndt S. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression ...
    https://medlineplus.gov/.../palmoplantar-keratoderma-with-deafness - Genetics
  9. WFS1 gene 
    ... Kunst HP, Hoefsloot EH, Cruysberg JR, Cremers CW. Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. Mol ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics
  10. Stickler syndrome 
    ... TYPE I; STL1 MARSHALL SYNDROME; MRSHS OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA STICKLER SYNDROME, TYPE II; STL2 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR STICKLER SYNDROME, TYPE V; STL5 STICKLER SYNDROME, ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
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