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Results 1 - 10 of 10 for Leber congenital amaurosis 4
  1. Leber congenital amaurosis 
    ... Registry: Leber congenital amaurosis 3 Genetic Testing Registry: Leber congenital amaurosis 4 Genetic Testing Registry: Leber congenital amaurosis 5 Genetic ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  2. GUCY2D gene 
    ... effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. Hum Mutat. 2002 Oct;20(4):322-3. doi: 10.1002/humu.9067. Citation ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  3. RPE65 gene 
    ... Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008. ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  4. CEP290 gene 
    ... Rozet JM. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9485. Citation on ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  5. CRB1 gene 
    ... Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008. ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  6. Senior-Løken syndrome 
    ... called nephronophthisis and an eye condition known as Leber congenital amaurosis.Nephronophthisis causes fluid-filled cysts to develop in ... fluids and waste products from the body effectively.Leber congenital amaurosis primarily affects the retina, which is the specialized ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  7. Keratoconus 
    ... be a feature of genetic syndromes, such as Leber congenital amaurosis and arterial tortuosity syndrome. When it is part ...
    https://medlineplus.gov/genetics/condition/keratoconus - Genetics
  8. 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
  9. Mainzer-Saldino syndrome 
    ... pattern of vision loss resembling a condition called Leber congenital amaurosis. In other people with Mainzer-Saldino syndrome, the ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  10. CRX gene 
    ... This Health Condition MedlinePlus Genetics provides information about Leber congenital amaurosis More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/crx - Genetics