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Results 1 - 10 of 13 for "Cone-rod" dystrophy 15
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 13 Genetic Testing Registry: Cone-rod dystrophy 15 Genetic Testing Registry: Cone-rod dystrophy 16 Genetic Testing Registry: Cone-rod dystrophy 17 ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. Mainzer-Saldino syndrome 
    ... of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. Am J Med Genet A. 2007 Oct 15;143A(20):2444-7. doi: 10.1002/ajmg. ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  3. Retinitis pigmentosa 
    ... in this gene are responsible for 10 to 15 percent of all cases of autosomal recessive retinitis pigmentosa. Changes in at least six genes are thought ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - 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 worsen with ...
    https://medlineplus.gov/.../ataxia-with-vitamin-e-deficiency - Genetics
  5. Vitelliform macular dystrophy 
    ... retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or ... and other maculopathies. Hum Mutat. 2000;15(4):301-8. doi: 10.1002/(SICI)1098- ...
    https://medlineplus.gov/.../condition/vitelliform-macular-dystrophy - Genetics
  6. 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
  7. Bardet-Biedl syndrome 
    ... Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):281-95. doi: 10.1002/ajmg. ... Biedl syndrome. Curr Opin Genet Dev. 2005 Jun;15(3):315-23. doi: 10.1016/j.gde. ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  8. 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
  9. Mitochondrial complex V deficiency 
    ... can cause a condition called neuropathy, ataxia, and retinitis pigmentosa (NARP). NARP causes a variety of signs and ... have cognitive impairment and an eye disorder called retinitis pigmentosa that causes vision loss.A condition called Leigh ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  10. PMM2-congenital disorder of glycosylation 
    ... Some affected individuals have an eye disorder called retinitis pigmentosa that causes vision loss. Females with PMM2-CDG ... Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):302-6. doi: 10.1002/ajmg. ...
    https://medlineplus.gov/...pmm2-congenital-disorder-of-glycosylation - Genetics
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