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Results 1 - 10 of 39 for Congenital ocular coloboma
  1. 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
  2. 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
  3. OTX2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition MedlinePlus Genetics provides ... of tissue in structures that form the eye (coloboma), intellectual disabilities, and abnormalities of the pituitary gland. ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  4. GJA1 gene 
    ... pump blood effectively. MedlinePlus Genetics provides information about Coloboma More About This Health Condition Variants (also called ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  5. SOX2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition MedlinePlus Genetics provides ... DR. The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 2014 Aug;57(8): ...
    https://medlineplus.gov/genetics/gene/sox2 - Genetics
  6. CHD7 gene 
    ... several of the features common in the disorder: coloboma, heart defect, atresia choanae (also known as choanal ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition CHD7_HUMAN FLJ20357 ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  7. ACTG1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition ACT ACTG ACTG_ ...
    https://medlineplus.gov/genetics/gene/actg1 - Genetics
  8. TCOF1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition TCOF_HUMAN TCS ...
    https://medlineplus.gov/genetics/gene/tcof1 - Genetics
  9. KMT2D gene 
    ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition Some gene variants ...
    https://medlineplus.gov/genetics/gene/kmt2d - Genetics
  10. FOXL2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition At least three ...
    https://medlineplus.gov/genetics/gene/foxl2 - Genetics
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