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Results 1 - 8 of 8 for Leber congenital amaurosis 5
  1. Leber congenital amaurosis 
    ... Registry: Leber congenital amaurosis 4 Genetic Testing Registry: Leber congenital amaurosis 5 Genetic Testing Registry: Leber congenital amaurosis 6 Genetic ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  2. Senior-Løken syndrome 
    ... unclear how they lead specifically to nephronophthisis and Leber congenital amaurosis.Some people with Senior-Løken syndrome do not have identified mutations in one of the five genes known to be associated with the condition. ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  3. CRB1 gene 
    ... In: Am J Hum Genet 2001 Nov;69(5):1160. Citation on PubMed or Free article on PubMed Central den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  4. CEP290 gene 
    ... 290 (CEP290). Exp Eye Res. 2011 May;92(5):316-7. doi: ... congenital amaurosis and delineation of the associated phenotype. Hum Mutat. ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  5. RPE65 gene 
    ... the RPE65 gene have been found to cause Leber congenital amaurosis. This condition is an eye disorder that primarily ... visual impairment beginning very early in life in Leber congenital amaurosis. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  6. 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
  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. 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