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Autosomal recessive nonsyndromic hearing loss 28
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... and symptoms. These conditions include a form of nonsyndromic hearing loss (hearing loss that does not affect other parts ... RJH, Azaiez H, Odell AM. SLC26A4-Related Sensorineural Hearing Loss. 1998 Sep 28 [updated 2025 Apr 3]. In: Adam MP, Feldman ...