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Results 1 - 10 of 15 for Autosomal dominant nonsyndromic hearing loss 1
  1. ACTG1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about ... gamma-actin deafness, autosomal dominant 20 deafness, autosomal dominant 26 DFNA20 DFNA26 gamma- ...
    https://medlineplus.gov/genetics/gene/actg1 - Genetics
  2. TBC1D24 gene 
    ... containing 6 TBC1 domain family member 24 isoform 1 TBC1 domain family member 24 isoform 2 TLDC6 ... AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul;35(7):819-23. ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  3. Nonsyndromic hearing loss 
    ... hearing loss.Another 20 to 25 percent of nonsyndromic hearing loss has an ... who also has hearing loss.Between 1 and 2 percent of cases have an X- ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  4. TECTA gene 
    ... TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7):825-34. ...
    https://medlineplus.gov/genetics/gene/tecta - Genetics
  5. 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
  6. 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
  7. GJB3 gene 
    ... pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. Biochim Biophys Acta. 2013 Jan;1832(1):285-91. doi: 10.1016/j.bbadis.2012.05.009. Epub 2012 May 19. Citation on PubMed Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5): ...
    https://medlineplus.gov/genetics/gene/gjb3 - Genetics
  8. Retinitis pigmentosa 
    ... estimated to affect 1 in 3,500 to 1 in 4,000 people in the United States and Europe. Mutations in more than 60 genes are known to cause nonsyndromic retinitis pigmentosa. More than 20 of these genes are associated with the autosomal dominant form of the disorder. Mutations in the RHO ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  9. Stickler syndrome 
    ... Stickler syndrome Genetic Testing Registry: Stickler syndrome type 1 Genetic Testing Registry: ... STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR STICKLER SYNDROME, TYPE V; STL5 STICKLER SYNDROME, ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  10. 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
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