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Results 11 - 14 of 14 for Developmental defect of the eye
  1. PNKP gene 
    ... problems with side-to-side movement of the eyes (oculomotor apraxia). These problems are due to the ... of PNKP mutations associated with microcephaly, seizures and developmental delay ... microcephaly, seizures and defects in DNA repair. Nat Genet. 2010 Mar;42( ...
    https://medlineplus.gov/genetics/gene/pnkp - Genetics
  2. FGFR3 gene 
    ... ears, the skeleton, and the glands in the eyes and mouth in people with LADD syndrome. More ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  3. CHD7 gene 
    ... parts of the body before birth, including the eye, the inner ear, and the brain. In the ... the features common in the disorder: coloboma, heart defect, atresia choanae (also known as ... by mutations that cause human developmental disorders. Proc Natl Acad Sci U S A. ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  4. ALG6 gene 
    ... in many organs and tissues, including the brain, eyes, and hormone-producing (endocrine) system. More About This ...
    https://medlineplus.gov/genetics/gene/alg6 - Genetics
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