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Results 1 - 5 of 5 for Leber congenital amaurosis 18
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  1. Leber congenital amaurosis 
    ... Registry: Leber congenital amaurosis 17 Genetic Testing Registry: Leber congenital amaurosis 18 Genetic Testing Registry: Leber congenital amaurosis 2 Genetic ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  2. GUCY2D gene 
    ... GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. Eur J Hum Genet. 2010 Oct;18(10):1121-6. doi: 10.1038/ejhg.2010. ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  3. CEP290 gene 
    ... 13. doi: 10.1086/519026. Epub 2007 May 18. Citation on PubMed or Free article ... frequent cause of Leber congenital amaurosis. Am J Hum Genet. 2006 Sep;79(3): ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  4. CRB1 gene 
    ... the CRB1 gene have been found to cause Leber congenital amaurosis. Leber congenital amaurosis is an eye disorder that primarily affects the ... Most of the CRB1 gene variants responsible for Leber congenital amaurosis lead to an abnormally short, nonfunctional version of ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  5. Farsightedness 
    ... as a characteristic feature include microphthalmia, achromatopsia, aniridia, Leber congenital amaurosis, X-linked juvenile retinoschisis, Senior-Løken syndrome, Gorlin- ...
    https://medlineplus.gov/genetics/condition/farsightedness - Genetics