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Results 1 - 10 of 20 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. Anophthalmia/Microphthalmia 
    ... abnormal development of the cells in the retina (retinal dysplasia); or microcornea, in which the clear front covering ...
    https://medlineplus.gov/.../condition/anophthalmia-microphthalmia - Genetics
  4. 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
  5. 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
  6. Kniest dysplasia 
    ... sensitive tissue at the back of the eye (retinal detachment). Kniest dysplasia is a rare condition, but the exact prevalence ... Nakatani S, Murakami A. A case of Kniest dysplasia with retinal detachment and the mutation analysis. Am J Ophthalmol. ...
    https://medlineplus.gov/genetics/condition/kniest-dysplasia - Genetics
  7. Spondyloepiphyseal dysplasia congenita 
    ... sensitive tissue at the back of the eye (retinal detachment). Some people with SED congenita have hearing loss.Some disorders, such as spondyloepiphyseal dysplasia with premature-onset arthrosis and Namaqualand type hip ...
    https://medlineplus.gov/.../spondyloepiphyseal-dysplasia-congenita - Genetics
  8. COL2A1 gene 
    ... sensitive tissue at the back of the eye (retinal detachment). This ocular type of ... called dysplasia of the proximal femoral epiphyses that are characterized ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  9. Asphyxiating thoracic dystrophy 
    ... pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss. Asphyxiating ... dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet. 2013 May;50(5): ...
    https://medlineplus.gov/.../asphyxiating-thoracic-dystrophy - Genetics
  10. Saul-Wilson syndrome 
    ... in which breakdown of the light-sensitive layer (retina) at the back of the eye can cause ... of the disorder in their family. Microcephalic osteodysplastic dysplasia Microcephalic osteodysplastic dysplasia Saul Wilson type Genetic Testing ...
    https://medlineplus.gov/genetics/condition/saul-wilson-syndrome - Genetics
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