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Results 1 - 8 of 8 for Autosomal recessive nonsyndromic hearing loss 28
  1. GJB2 gene 
    ... Smith RJH, Azaiez H, Booth K. GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul 20]. In: Adam MP, Feldman ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  2. Nonsyndromic hearing loss 
    ... pattern. About half of all severe-to-profound autosomal recessive nonsyndromic hearing loss results from mutations in the GJB2 gene; these ... for hearing.The most common cause of moderate autosomal recessive nonsyndromic hearing loss is mutations in the STRC gene. These mutations ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
  3. 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
  4. 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
  5. Pendred syndrome 
    ... Smith RJH, Iwasa Y, Schaefer AM. Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct. 1998 ... Citation on PubMed
    https://medlineplus.gov/genetics/condition/pendred-syndrome - Genetics
  6. Perrault syndrome 
    ... this gene affect peroxisome function or lead to hearing loss in affected males and females and ovarian abnormalities in females with Perrault ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  7. SLC26A4 gene 
    ... gene mutations have been identified in people with nonsyndromic hearing loss, which is loss of hearing that is not ... Mutations in this gene cause a form of nonsyndromic hearing loss called DFNB4. This form of hearing loss can ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics
  8. GJA1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Nonsyndromic hearing loss More About This Health Condition At least 76 ... K, Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics