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Results 1 - 10 of 25 for "Deafness," autosomal dominant 7
  1. Nonsyndromic hearing loss 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov DEAFNESS, AUTOSOMAL DOMINANT 7; DFNA7 DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, AUTOSOMAL RECESSIVE 2; ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  2. KCNQ4 gene 
    ... Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet. 1999 Jul;8(7):1321-8. doi: 10.1093/hmg/8.7. ...
    https://medlineplus.gov/genetics/gene/kcnq4 - Genetics
  3. Palmoplantar keratoderma with deafness 
    ... Organization for Rare Disorders (NORD) KERATODERMA, ... mutations of R75W and R75Q in the GJB2 gene. Am J Med Genet A. 2010 Jul;152A(7):1798-802. doi: 10.1002/ajmg.a.33464. ...
    https://medlineplus.gov/.../palmoplantar-keratoderma-with-deafness - Genetics
  4. DNMT1 gene 
    ... doi: 10.4161/epi.29676. Epub 2014 Jul 7. Citation on PubMed or Free article on ... ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive ...
    https://medlineplus.gov/genetics/gene/dnmt1 - Genetics
  5. TECTA gene 
    ... mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub ...
    https://medlineplus.gov/genetics/gene/tecta - Genetics
  6. GJB3 gene 
    The GJB3 gene provides instructions for making a protein called gap junction beta 3, more commonly known as connexin 31. This protein is part of the connexin ...
    https://medlineplus.gov/genetics/gene/gjb3 - Genetics
  7. Autosomal dominant optic atrophy and cataract 
    ... caused by abnormalities of the inner ear (sensorineural deafness). Autosomal dominant optic atrophy and cataract is one form of ...
    https://medlineplus.gov/...somal-dominant-optic-atrophy-and-cataract - Genetics
  8. Nearsightedness 
    ... MYP6 MYOPIA 17, AUTOSOMAL DOMINANT; MYP17 MYOPIA 5, AUTOSOMAL DOMINANT; MYP5 MYOPIA 7; MYP7 MYOPIA 8; MYP8 MYOPIA 9; MYP9 MYOPIA 10; MYP10 MYOPIA 14; MYP14 MYOPIA 11, AUTOSOMAL DOMINANT; MYP11 MYOPIA 12, AUTOSOMAL DOMINANT; MYP12 MYOPIA 16, ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  9. Craniofacial-deafness-hand syndrome 
    ... bones, nerve tissue, and muscles seen in craniofacial-deafness-hand syndrome. PAX3 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../craniofacial-deafness-hand-syndrome - Genetics
  10. TBC1D24 gene 
    ... Black-Ziegelbein EA, Smith RJ. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
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