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Results 1 - 10 of 10 for "X-linked" "cone-rod" dystrophy 1
  1. Cone-rod dystrophy 
    ... Testing Registry: Cone-rod dystrophy Genetic Testing Registry: X-linked cone-rod dystrophy 1 Genetic Testing Registry: X-linked cone-rod dystrophy ... CONE-ROD DYSTROPHY 6; CORD6 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 CONE-ROD DYSTROPHY 5; CORD5 CONE-ROD DYSTROPHY, X-LINKED, 2; ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. RPGR gene 
    ... WITHOUT DEAFNESS; RPSRDF RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 NCBI Gene ClinVar Ayyagari R, Demirci FY, ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  3. CACNA1F gene 
    ... least one other CACNA1F mutation is responsible for X-linked cone-rod ... of the alpha-1 subunit, which likely prevents the production of functional ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  4. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  5. RP2 gene 
    ... the primary cilium. Hum Mol Genet. 2010 Apr 1;19(7):1358-67. doi: ... X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the ...
    https://medlineplus.gov/genetics/gene/rp2 - Genetics
  6. Retinitis pigmentosa 
    ... and RP2 genes account for most cases of X-linked retinitis pigmentosa.The genes associated with retinitis pigmentosa play essential ... an X-linked pattern. The genes associated with X-linked retinitis pigmentosa are located on the X chromosome, which is ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  7. Nearsightedness 
    ... ClinicalTrials.gov MYOPIA 2, AUTOSOMAL DOMINANT; MYP2 MYOPIA 1, X-LINKED; MYP1 MYOPIA 13, X-LINKED; MYP13 MYOPIA 18, ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  8. Choroideremia (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...
    https://www.fightingblindness.org/diseases/choroideremia - External Health Links
  9. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Birth Defects/Specifics ... Birth Defects ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  10. Muscular Dystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Muscular Dystrophy/Start Here ... Muscular Dystrophy ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Muscular dystrophy ( ...
    https://www.ninds.nih.gov/.../disorders/muscular-dystrophy - External Health Links