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Results 1 - 7 of 7 for Isolated optic nerve hypoplasia
  1. HESX1 gene 
    ... aplasia, but normally located posterior pituitary and no optic nerve abnormalities. J Clin Endocrinol Metab. 2006 Nov;91(11): ... heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese ...
    https://medlineplus.gov/genetics/gene/hesx1 - Genetics
  2. FBN1 gene 
    ... In these cases, the diagnosis often changes from isolated ectopia lentis to ... tissue lead to heart and eye problems in people with this disorder. In addition, ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  3. TUBB2B gene 
    ... muscles) are particularly affected. Abnormal development of cranial nerves impairs the ... More About This Health Condition MedlinePlus ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  4. SALL4 gene 
    ... may also be important for the development of nerves that control eye movement and for the formation of the walls ( ... arms and hands, hearing loss, and problems with eye movement caused by abnormalities of the muscles that surround the eyes (extraocular ...
    https://medlineplus.gov/genetics/gene/sall4 - Genetics
  5. FGFR1 gene 
    ... by the growth of noncancerous tumors and other abnormalities in the brain, eyes, and skin. The variants that cause ECCL are ... of smell. This condition is often called normosmic isolated hypogonadotropic ... of GnRH-producing nerve cells in the developing brain, which affects the ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  6. SMCHD1 gene 
    ... BAMS (described above), which is referred to as isolated arhinia. Researchers are working to understand why some people with mutations in this gene develop only arhinia and others have additional abnormalities. KIAA0650 SMC hinge domain-containing protein 1 structural ...
    https://medlineplus.gov/genetics/gene/smchd1 - Genetics
  7. CHD7 gene 
    ... parts of the body before birth, including the eye, the inner ear, and the brain. In the brain, the CHD7 protein is active in several areas, including a bundle of nerve cells (neurons) called the olfactory bulb that is ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics