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Results 1 - 10 of 11 for Anterior segment of eye aplasia
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  1. FOXC1 gene 
    ... the FOXC1 protein impairs the development of the anterior segment of the eye, leading to the eye abnormalities characteristic of Axenfeld-Rieger syndrome. In some cases, ...
    https://medlineplus.gov/genetics/gene/foxc1 - Genetics
  2. PITX2 gene 
    ... sensitive to changes in PITX2 protein activity, and abnormalities of the anterior segment of the eye are the predominant features of Axenfeld-Rieger syndrome. ...
    https://medlineplus.gov/genetics/gene/pitx2 - Genetics
  3. Axenfeld-Rieger syndrome 
    ... leads to problems in the formation of the anterior segment of the eye and other parts of the body. These developmental abnormalities underlie the characteristic features of Axenfeld-Rieger syndrome. ...
    https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome - Genetics
  4. Peters plus syndrome 
    ... the clear covering of the eye (cornea). An eye problem called Peters anomaly is the most common anterior segment abnormality seen in Peters plus syndrome. Peters anomaly involves ...
    https://medlineplus.gov/genetics/condition/peters-plus-syndrome - Genetics
  5. Peters anomaly 
    ... of these four genes disrupt development of the anterior segment of the eye. ... eye abnormalities including small, faint opacities. It is likely that ...
    https://medlineplus.gov/genetics/condition/peters-anomaly - Genetics
  6. EYA1 gene 
    ... the EYA1 gene have been associated with eye abnormalities including clouding of the lens (cataracts) and clouding ... front surface of the eye (the cornea). These abnormalities occur without the characteristic features of BOR/BO ...
    https://medlineplus.gov/genetics/gene/eya1 - Genetics
  7. Autosomal dominant vitreoretinochoroidopathy 
    ... vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of ... chloride ion transport or lead to the eye abnormalities characteristic of ADVIRC. Researchers suspect that the abnormalities ...
    https://medlineplus.gov/...osomal-dominant-vitreoretinochoroidopathy - Genetics
  8. Alagille Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Congenital Heart Defects/Genetics ... Congenital Heart Defects ... Bile Duct Diseases/Genetics ... Bile Duct Diseases ... Genetic and Rare Diseases Information Center ... From ...
    https://rarediseases.info.nih.gov/diseases/804/alagille-syndrome - External Health Links
  9. HDAC8 gene 
    ... variants often have less severe growth problems, fewer abnormalities of the arms and hands, and different characteristic ... in infancy, widely spaced eyes (hypertelorism), and dental abnormalities. Like affected individuals with NIPBL gene variants, those ...
    https://medlineplus.gov/genetics/gene/hdac8 - Genetics
  10. Brain Facts: Glossary (Society for Neuroscience)  
    Brain Diseases/Reference Desk ... Brain Diseases ... Society for Neuroscience
    https://www.brainfacts.org/Glossary - External Health Links
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