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Results 1 - 9 of 9 for "Cone-rod" dystrophy 12
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 11 Genetic Testing Registry: Cone-rod dystrophy 12 Genetic Testing Registry: Cone-rod dystrophy 13 Genetic ... DYSTROPHY 19; CORD19 CONE-ROD DYSTROPHY 17; CORD17 CONE-ROD DYSTROPHY 12; CORD12 PubMed Boulanger-Scemama E, El Shamieh S, ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. 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
  3. Mainzer-Saldino syndrome 
    ... The most common rod-cone dystrophy is called retinitis pigmentosa, and the vision problems in Mainzer-Saldino syndrome ... deposits of pigment in the retina from which retinitis pigmentosa gets its name are often not found in ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  4. 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
  5. ALG6-congenital disorder of glycosylation 
    ... same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with ALG6-CDG ... Sci U S A. 1999 Jun 8;96(12):6982-7. doi: 10.1073/pnas.96.12. ...
    https://medlineplus.gov/...alg6-congenital-disorder-of-glycosylation - Genetics
  6. Mevalonate kinase deficiency 
    ... the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the ... syndrome in childhood. Curr Rheumatol Rep. 2010 Apr;12(2):101-7. doi: 10.1007/s11926-010- ...
    https://medlineplus.gov/.../condition/mevalonate-kinase-deficiency - Genetics
  7. Senior-Løken syndrome 
    ... Hildebrandt F. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. ... doi: 10.1038/ng.662. Epub 2010 Sep 12. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  8. Cold-induced sweating syndrome 
    ... Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99( ... Crisponi Syndrome. 2011 Mar 3 [updated 2021 Aug 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
  9. PMM2-congenital disorder of glycosylation 
    ... Some affected individuals have an eye disorder called retinitis pigmentosa that causes vision loss. Females with PMM2-CDG ... dolichol-linked oligosaccharides. Hum Mutat. 2009 Dec;30(12):1628-41. doi: 10.1002/humu.21126. Citation ...
    https://medlineplus.gov/...pmm2-congenital-disorder-of-glycosylation - Genetics