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Results 91 - 100 of 389 for Abnormality of the eye
  1. Treacher Collins syndrome 
    ... an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition ...
    https://medlineplus.gov/genetics/condition/treacher-collins-syndrome - Genetics
  2. Rubinstein-Taybi syndrome 
    ... toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. ...
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome - Genetics
  3. Methylmalonic acidemia with homocystinuria 
    ... feeding and have an abnormally pale appearance (pallor). Eye abnormalities and neurological problems, including weak muscle tone (hypotonia) ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  4. Axenfeld-Rieger syndrome 
    ... of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For ... than those with FOXC1 gene mutations to have abnormalities affecting parts of the body other than the eye.Some people with Axenfeld-Rieger syndrome do not ...
    https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome - Genetics
  5. PURA syndrome 
    ... features in people with PURA syndrome can include abnormalities of the heart, eyes, urogenital tract, gastrointestinal tract, and skeleton. Some affected ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  6. Freeman-Sheldon syndrome 
    ... cheeks. Affected individuals may have a number of abnormalities that affect the eyes. These features can include widely spaced eyes (hypertelorism), ...
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
  7. Myhre syndrome 
    ... clouding of the lenses (cataracts), or rarely, an abnormality of the back of the eye called pseudopapilledema.Children with Myhre syndrome have delayed ...
    https://medlineplus.gov/genetics/condition/myhre-syndrome - Genetics
  8. Early-onset glaucoma 
    ... early-onset glaucoma depends mainly on heredity.Structural abnormalities that impede fluid drainage in the eye increase ocular pressure. These abnormalities may be present ...
    https://medlineplus.gov/genetics/condition/early-onset-glaucoma - Genetics
  9. Deoxyguanosine kinase deficiency 
    ... deoxyguanosine kinase deficiency can have heart problems, brain abnormalities, or weakness of the eye muscles. People with the myopathic form typically do ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  10. Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 
    ... abnormalities that occur in RAMSVPS, or why these abnormalities are confined to the eyes and the pulmonary artery. Researchers suggest that differences ...
    https://medlineplus.gov/...rysm-with-supravalvular-pulmonic-stenosis - Genetics
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