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Results 1 - 10 of 14 for "Cone-rod" dystrophy 5
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 3 Genetic Testing Registry: Cone-rod dystrophy 5 Genetic Testing Registry: Cone-rod dystrophy 6 Genetic ... CORD6 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 CONE-ROD DYSTROPHY 5; CORD5 CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2 ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. Mainzer-Saldino syndrome 
    ... Lucchina AG, Migliario M. Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses. J Craniofac Surg. 2010 Sep;21(5):1554-6. doi: 10.1097/SCS.0b013e3181ec69bb. Citation ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  3. Senior-Løken syndrome 
    ... Hildebrandt F. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet. 2002 Nov;71(5):1161-7. doi: 10.1086/344395. Epub 2002 ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  4. Ataxia with vitamin E deficiency 
    ... this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to ...
    https://medlineplus.gov/.../ataxia-with-vitamin-e-deficiency - Genetics
  5. Cold-induced sweating syndrome 
    ... Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j.ajhg.2016.05.026. Erratum In: Am J Hum Genet. 2018 Apr 5;102(4):713. doi: 10.1016/j.ajhg. ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
  6. TRNT1 deficiency 
    ... approximately every 2 to 4 weeks and lasting 5 to 7 days, although the frequency ... called retinitis pigmentosa, in which the light-sensing cells of the ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  7. Neuropathy, ataxia, and retinitis pigmentosa 
    Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms that mainly affect the nervous system. The condition ...
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  8. 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
  9. Bardet-Biedl syndrome 
    ... extensively heterogeneous disease. Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804- ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  10. Refsum disease 
    ... disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive ... the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics
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