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Abnormality of the eye
- ... this spreading cell damage may lead to the eye abnormalities and other signs and symptoms of microphthalmia with ...
- ... COL4A1-related brain small-vessel disease have an eye abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly involves underdevelopment and eventual tearing of the colored part of the eye (iris) and a pupil that is not in ...
- ... corneal opacity, or they can result in minor eye abnormalities including small, faint opacities. It is likely that mutations that cause a complete absence of protein function result in the most severe eye problems. It is unknown why both eyes are ...
- ... anterior segment of the eye, leading to the eye abnormalities characteristic of Axenfeld-Rieger syndrome. In some cases, ... an elevated risk of increased pressure in the eye (glaucoma).FOXC1 gene ... abnormalities of brain development. Mutations that change single protein ...
- ... disorder with similar features and the addition of eye abnormalities, many researchers categorize KID syndrome and HID as a single disorder, which they call KID/HID. It is not known why some people with this mutation have eye problems while others do not. GJB2 This condition ...
- ... 2 do not generally have iris heterochromia.The abnormalities in the eye area related to Horner syndrome do not generally ...
- ... problems, including a kidney condition called nephronophthisis and eye abnormalities.The WDR19 gene mutations involved in cranioectodermal dysplasia ...
- ... average height and have a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. Several of the ...
- ... 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- ...