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Autosomal recessive nonsyndromic hearing loss 7
- ... Genetic Testing Registry: Hereditary hearing loss and deafness Nonsyndromic hereditary ... DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A DEAFNESS, ...
- ... of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am J Med Genet A. 2011 Jul;155A(7):1668-72. doi: 10.1002/ajmg.a.34071. ...
- ... M, Lancet D, Beckmann JS. CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur J Hum Genet. 2003 Jul;11(7):497-502. doi: 10.1038/sj.ejhg.5200991. ...
- ... 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 ...
- ... and symptoms. These conditions include a form of nonsyndromic hearing loss (hearing loss ... researchers estimate that it accounts for 7 to 8 percent of all hearing loss that ...