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Abnormality of the eye
- ... cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen ( ...
- ... occur in cerebro-facio-thoracic dysplasia, such as abnormalities involving the eyes, skin, or hair. Heart defects, digestive problems, or genitourinary problems (such as abnormal kidneys or reproductive organs) can also occur. Affected ... of the body. Cerebro-facio- ...
- ... mouth (cleft palate), a small chin (micrognathia), ear abnormalities, wide-set eyes (hypertelorism), outer corners of the eyes that point ... clouding of the clear front covering of the eyes (corneal opacities). In ... and genital abnormalities.Infants with a severe form of Roberts syndrome ...
- ... syndrome is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities.People with Mainzer-Saldino syndrome have chronic kidney ...
- ... disorder.Less commonly, 17q12 deletion syndrome also causes abnormalities of the eyes, liver, brain, genitalia, and other body systems. Some ...
- ... cleft lip). Wolf-Hirschhorn syndrome can also cause abnormalities of the eyes, heart, and genitourinary tract.A condition called Pitt- ...
- ... fluid-filled sacs (cysts) in the pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to ...
- ... Less commonly, 17q12 duplications have been associated with abnormalities of the eyes, heart, kidneys, and brain. Some individuals with this ...
- ... in affected individuals.Some people with SCA36 have abnormalities of the eye muscles, which can lead to involuntary eye movements ( ...
- ... muscle tone (hypotonia), and abnormally loose (lax) joints. Abnormalities of the eyes, brain, heart, and kidneys may also be present. ...