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Results 1 - 10 of 77 for Coloboma
  1. Renal coloboma syndrome 
    Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition ...
    https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome - Genetics
  2. Coloboma 
    Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
  3. Coloboma of the iris 
    Coloboma of the iris is a hole or defect of the iris of the eye. Most colobomas are present since birth (congenital). ... Coloboma of the iris can look like a second pupil or a black notch at the edge ...
    https://medlineplus.gov/ency/article/003318.htm - Medical Encyclopedia
  4. Facts about Coloboma From the National Institutes of Health (National Eye Institute)  
    Eye Diseases/Specifics ... Eye Diseases ... Coloboma is a condition where some tissue is missing in a part of the eye, like the iris, pupil, lens, retina, or another ...
    https://www.nei.nih.gov/.../eye-conditions-and-diseases/coloboma - External Health Links
  5. Coloboma of Optic Nerve From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Find symptoms and other information about Coloboma of optic nerve.
    https://rarediseases.info.nih.gov/.../8502/coloboma-of-optic-nerve - External Health Links
  6. Coloboma of the iris (image) 
    A coloboma is a defect in the iris of the eye. It can appear as a black notch of ... the pupil, giving the pupil an irregular shape. Coloboma is a congenital iris defect. Sometimes eye surgery ...
    https://medlineplus.gov/ency/imagepages/8750.htm - Medical Encyclopedia
  7. Baraitser-Winter syndrome 
    ... frontofacial syndrome, type 3 Fryns-Aftimos syndrome Iris coloboma with ptosis, hypertelorism, and mental retardation Genetic Testing ... 2; BRWS2 PubMed Baraitser M, Winter RM. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. ...
    https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome - Genetics
  8. Microphthalmia 
    ... with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that ... carry information from the eyes to the brain. Colobomas may be present in one or both eyes ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  9. PAX2 gene 
    ... PAX2 gene have been found to cause renal coloboma syndrome. Most variants are specific to each affected ... development, causing the signs and symptoms of renal coloboma syndrome. More About This Health Condition MedlinePlus Genetics ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics
  10. PAX6 gene 
    ... PAX6 gene can cause an eye problem called coloboma, in which there is a gap or split ... a transcription factor.In addition to microphthalmia or coloboma (described above), individuals with these relatively mild PAX6 ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
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