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Results 1 - 10 of 174 for Optic nerve aplasia
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  1. HESX1 gene 
    ... aplasia, but normally located posterior pituitary and no optic nerve abnormalities. J Clin Endocrinol Metab. 2006 Nov;91(11): ... element insertion in the homeodomain of HESX1 and aplasia of the anterior ... and optic nerve hypoplasia and combined pituitary hormone deficiency in a ...
    https://medlineplus.gov/genetics/gene/hesx1 - Genetics
  2. NGLY1-congenital disorder of deglycosylation 
    ... problems with liver function. Some affected individuals have eye abnormalities, including degeneration of the nerves that carry information from the eyes to the ...
    https://medlineplus.gov/...y1-congenital-disorder-of-deglycosylation - Genetics
  3. PAX2 gene 
    ... gene variants are also found in individuals with abnormalities of the optic nerve, which carries visual information from the eyes to the brain. These individuals do not have the kidney anomalies associated ... with eye abnormalities likely disrupt regulation of genes that help direct ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics
  4. CASK-related intellectual disability 
    ... loss), and most also have abnormalities affecting the eyes. These abnormalities include underdevelopment of the nerves that carry information from the eyes to the ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  5. Ocular albinism 
    ... to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to ...
    https://medlineplus.gov/genetics/condition/ocular-albinism - Genetics
  6. Triple A syndrome 
    ... individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the ...
    https://medlineplus.gov/genetics/condition/triple-a-syndrome - Genetics
  7. Duane-radial ray syndrome 
    ... Duane anomaly (also known as Duane syndrome). This abnormality results from the improper development of certain nerves that control eye movement. Duane anomaly limits outward eye movement (toward ...
    https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome - Genetics
  8. Aicardi syndrome 
    ... a gap or hole (coloboma) in the optic nerve, a structure that carries information from the eye to the brain. These eye abnormalities may cause blindness in affected individuals.Some people ...
    https://medlineplus.gov/genetics/condition/aicardi-syndrome - Genetics
  9. Beta-ureidopropionase deficiency 
    ... head size (microcephaly); they may also have brain abnormalities that can be seen with medical imaging. Deterioration of the optic nerve, which carries visual information from the eyes to ...
    https://medlineplus.gov/.../beta-ureidopropionase-deficiency - Genetics
  10. Thiamine-responsive megaloblastic anemia syndrome 
    ... a person needs.Some individuals with TRMA have abnormalities of the eye, including optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the ...
    https://medlineplus.gov/...-responsive-megaloblastic-anemia-syndrome - Genetics
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