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Results 1 - 10 of 29 for Retinal dysplasia
  1. Walker-Warburg syndrome 
    ... COD-MD syndrome HARD syndrome Hydrocephalus, agyria, and retinal dysplasia MDDGA Muscular dystrophy-dystroglycanopathy (congenital with brain and ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  2. Mainzer-Saldino syndrome 
    ... Mainzer-Saldino chondrodysplasia Mainzer-Saldino disease MZSDS Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia Saldino- ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  3. Leber congenital amaurosis 
    ... retinal blindness CRB Dysgenesis neuroepithelialis retinae Hereditary epithelial dysplasia of retina Hereditary retinal aplasia Heredoretinopathia congenitalis LCA Leber abiotrophy ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  4. Senior-Løken syndrome 
    ... symptoms of the condition. Loken-Senior syndrome Renal dysplasia and retinal aplasia Renal-retinal syndrome Senior-Loken syndrome Genetic ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  5. Kniest dysplasia 
    ... Nakatani S, Murakami A. A case of Kniest dysplasia with retinal detachment and the mutation analysis. Am J Ophthalmol. 2003 Dec;136(6):1186-8. doi: 10.1016/s0002-9394(03)00713-x. Citation on PubMed
    https://medlineplus.gov/genetics/condition/kniest-dysplasia - Genetics
  6. Septo-Optic Dysplasia From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... the eye, where the optic nerve meets the retina.
    https://www.ninds.nih.gov/.../disorders/septo-optic-dysplasia - External Health Links
  7. Spondyloepimetaphyseal dysplasia, Strudwick type 
    ... and tearing of the lining of the eye (retinal detachment). This condition is rare; only a few affected individuals have been reported worldwide. Spondyloepimetaphyseal dysplasia, Strudwick type is one of a spectrum of ...
    https://medlineplus.gov/...loepimetaphyseal-dysplasia-strudwick-type - Genetics
  8. Mucopolysaccharidoses From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Carbohydrate Metabolism Disorders/Specifics ... Carbohydrate Metabolism Disorders ... National Institute of Neurological Disorders and Stroke ... From the National Institutes ...
    https://www.ninds.nih.gov/.../disorders/mucopolysaccharidoses - External Health Links
  9. Congenital cataract 
    ... light that comes into the eye onto the retina .
    https://medlineplus.gov/ency/article/001615.htm - Medical Encyclopedia
  10. COL2A1 gene 
    ... retinal detachment. Rhegmatogenous retinal detachment occurs when the ... spondyloepiphyseal dysplasia (SED) due to COL2A1 mutation with early-onset ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
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