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Results 1 - 3 of 3 for Retinal "dystrophy," "early-onset" severe
  1. SRD5A3-congenital disorder of glycosylation 
    ... nerve hypoplasia), or vision loss early in life (early-onset severe retinal dystrophy). Over time, affected individuals may develop clouding of ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  2. Achromatopsia 
    ... ClinicalTrials.gov ACHROMATOPSIA 3; ACHM3 ACHROMATOPSIA 2; ACHM2 RETINAL CONE DYSTROPHY 3A; RCD3A ACHROMATOPSIA 4; ACHM4 CONE DYSTROPHY 4; ... Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet. 2009 ...
    https://medlineplus.gov/genetics/condition/achromatopsia - Genetics
  3. Stickler syndrome 
    ... distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Marshall syndrome can also include short stature. ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics