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Results 1 - 10 of 18 for "Cone-rod" dystrophy 16
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 15 Genetic Testing Registry: Cone-rod dystrophy 16 Genetic Testing Registry: Cone-rod dystrophy 17 Genetic Testing Registry: Cone-rod dystrophy 18 ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. Neuropathy, ataxia, and retinitis pigmentosa 
    ... 16-22. doi: 10.1136/jnnp.63.1.16. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  3. GUCY2D gene 
    ... 10.1167/iovs.08-1901. Epub 2008 May 16. Citation on PubMed ... patients with dominant cone-rod dystrophies. J Med Genet. 2001 Sep;38(9):611- ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  4. CACNA1F gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Variants in the ... EM, Alitalo T, Bech-Hansen NT. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  5. Nearsightedness 
    ... night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  6. CNGB3 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Variants in the ... Mol Genet. 2000 Sep 1;9(14):2107-16. doi: 10.1093/hmg/9.14.2107. Citation ...
    https://medlineplus.gov/genetics/gene/cngb3 - Genetics
  7. PDE6C gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition ACHM5 cGMP phosphodiesterase ...
    https://medlineplus.gov/genetics/gene/pde6c - Genetics
  8. RHO gene 
    ... light that remains stable (stationary) over time. Unlike retinitis pigmentosa (described below), autosomal dominant congenital stationary night blindness ...
    https://medlineplus.gov/genetics/gene/rho - Genetics
  9. MYO7A gene 
    ... were thought to have nonsyndromic hearing loss developed retinitis pigmentosa (a vision disorder characteristic of Usher syndrome) later ... However, other individuals diagnosed with DFNB2 never develop retinitis pigmentosa, and recent studies indicate that DFNB2 and Usher ...
    https://medlineplus.gov/genetics/gene/myo7a - Genetics
  10. RPE65 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition all-trans-retinyl- ... kDa protein retinal pigment epithelium-specific protein 65kDa retinitis pigmentosa 20 (autosomal recessive) retinoid isomerohydrolase retinol isomerase RP20 ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
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