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Results 1 - 8 of 8 for "Deafness," autosomal dominant 41
  1. 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 ... G, Bonneau D. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet. 2004 Sep;41(9):e110. doi: 10.1136/jmg.2003.016576. ...
    https://medlineplus.gov/...somal-dominant-optic-atrophy-and-cataract - Genetics
  2. DNMT1 gene 
    ... in people with a nervous system disorder called autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN). Features of this disorder include ...
    https://medlineplus.gov/genetics/gene/dnmt1 - Genetics
  3. Craniometaphyseal dysplasia 
    ... dysplasia. Nat Genet. 2001 May;28(1):37-41. doi: 10.1038/ng0501-37. Citation on PubMed Reichenberger E, Chen IP. Craniometaphyseal Dysplasia, Autosomal Dominant. 2007 Aug 27 [updated 2020 Jun 11]. In: ...
    https://medlineplus.gov/.../condition/craniometaphyseal-dysplasia - Genetics
  4. OPA1 gene 
    ... a condition called optic atrophy type 1 and deafness, which results in both vision loss and hearing loss. OPA1 mutations can also cause a condition known as autosomal dominant optic atrophy (ADOA)-plus syndrome. ADOA-plus syndrome ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  5. Alport syndrome 
    ... ARAS) -- Males and females have equally severe disease. Autosomal dominant Alport syndrome (ADAS) -- This is the rarest type. ...
    https://medlineplus.gov/ency/article/000504.htm - Medical Encyclopedia
  6. Noonan syndrome with multiple lentigines 
    ... syndrome with multiple lentigines is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../noonan-syndrome-with-multiple-lentigines - Genetics
  7. Lacrimo-auriculo-dento-digital syndrome 
    ... FGFR2 FGFR3 This condition is inherited in an autosomal dominant pattern, which means a mutation in one copy ...
    https://medlineplus.gov/.../lacrimo-auriculo-dento-digital-syndrome - Genetics
  8. Cryopyrin-associated periodic syndromes 
    ... CAPS. NLRP3 CAPS are usually inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../cryopyrin-associated-periodic-syndromes - Genetics