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Results 1 - 10 of 18 for cataract
  1. ... have been found to cause hypomyelination and congenital cataract. Most mutations delete a large portion of the ... of hyccin causes a clouding of the lens (cataract) in both eyes that is typically present from ...
  2. ... found to cause autosomal dominant optic atrophy and cataract. This condition causes slowly worsening vision in both ... and clouding of the lenses of the eyes (cataracts). Some affected individuals have additional features such as ...
  3. ... gene have been identified in people with hyperferritinemia-cataract syndrome. Individuals affected by this disorder have an ... to clouding of the lenses of the eyes (cataracts) in infancy.The mutations that cause hyperferritinemia-cataract ...
  4. ... ClinVar Kalaydjieva L, Chamova T. CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy. 2010 Mar 2 [updated ... books/NBK25565/ Citation on PubMed Kalaydjieva L. Congenital cataracts-facial dysmorphism-neuropathy. Orphanet J Rare Dis. 2006 ...
  5. ... and clouding of the lenses of the eyes (cataracts). In addition, affected individuals have an increased amount ... S, Rahman S. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a ...
  6. ... with eye abnormalities including clouding of the lens (cataracts) and clouding of the clear front surface of ... absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet. ...
  7. ... joints; clouding of the lenses of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement ... include clouding of the lenses of the eyes (cataracts), developmental delay, or intellectual disability.The ALDH18A1 gene ...
  8. ... a clouding of the lens of the eye (cataracts), involuntary eye movements (nystagmus), and inflammation of the ... 1; FVH1 KERATITIS, HEREDITARY OPTIC NERVE HYPOPLASIA, BILATERAL CATARACT 9, MULTIPLE TYPES; CTRCT9 PAIRED BOX GENE 6; ...
  9. ... loss through retinal detachment, cloudiness of the lens (cataract), or increased pressure inside the eye (glaucoma) that ...
  10. ... They may also develop clouding of the lenses (cataracts) or increased pressure in the eyes (glaucoma) at ...
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