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Cataract 30
- ... deteriorate during the first months of life, and cataracts (cloudiness in the lens of the eye) may eventually develop.About 30 percent of individuals with Norrie disease develop progressive ...
- ... ear (sensorineural deafness). Autosomal dominant optic atrophy and cataract is one form of autosomal dominant optic atrophy, a group of conditions that are estimated to affect 1 in 30,000 people worldwide, and approximately 1 in 10, ...
- ... vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems. Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. Galactosemia type II ...
- ... CJ, Katsarou E, Gooding R, Kalaydjieva L. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis. Eur J Pediatr. 2007 Jul;166(7):747-9. doi: 10.1007/s00431-006-0307-9. Epub 2006 Dec 30. Citation on PubMed Mullner-Eidenbock A, Moser E, ...
- ... 30:317-37. doi: 10.1146/annurev.neuro.30.051606.094232. Citation on PubMed Millonig G, Muckenthaler MU, Mueller S. Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly ...
- ... structures, transporting molecules, and producing energy. ... clouding of the lens of the eye (cataracts) but otherwise experience few of the long-term ...
- ... and clouding of the lens of the eyes (cataracts).The bleeding problems in people with MYH9-related ... stage renal disease (ESRD).Some affected individuals develop cataracts in early adulthood that worsen over time.Not ...
- ... tumors occur in both ears (bilaterally) by age 30. If tumors develop ... clouding of the lens (cataracts) in one or both eyes, often beginning in ...
- ... have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in ... cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet. 2005 Dec;37(12): ...
- ... including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed ... Rare Disorders (NORD) ClinicalTrials.gov MICROPHTHALMIA, ISOLATED, WITH CATARACT 1; MCOPCT1 MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA; MCOPCR MICROPHTHALMIA/ ...