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Results 1 - 10 of 24 for Optic nerve dysplasia
  1. Renal coloboma syndrome 
    ... on PubMed Schimmenti LA, Manligas GS, Sieving PA. Optic nerve dysplasia and renal insufficiency in a family with a ...
    https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome - Genetics
  2. PAX2 gene 
    ... on PubMed Schimmenti LA, Manligas GS, Sieving PA. Optic nerve dysplasia and renal insufficiency in a family with a ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics
  3. Septo-optic dysplasia 
    ... Lloyd IC, Clayton PE. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J Pediatr. 2006 Jan;148( ... Lix LM. Morbidities and comorbidities associated with optic nerve hypoplasia and septo-optic-pituitary dysplasia. Dev Med Child Neurol. 2025 Jul;67(7): ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
  4. HESX1 gene 
    ... and early development of the pituitary gland, optic nerves, and other brain structures. These abnormalities of brain development lead to the characteristic features of septo-optic dysplasia.Studies suggest that mutations in the HESX1 gene ...
    https://medlineplus.gov/genetics/gene/hesx1 - Genetics
  5. Craniometaphyseal dysplasia 
    ... wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a ... pinch (compress) the nerves that extend from the brain to various areas ...
    https://medlineplus.gov/.../condition/craniometaphyseal-dysplasia - Genetics
  6. OTX2 gene 
    ... information from the eyes to the brain (optic nerves). The OTX2 protein is also involved in brain ... About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  7. TMCO1 gene 
    ... resulting in the features of cerebro-facio-thoracic dysplasia. More About This Health ... results from damage to the nerves that connect the eyes and the brain (the ...
    https://medlineplus.gov/genetics/gene/tmco1 - Genetics
  8. Walker-Warburg syndrome 
    ... information from the eyes to the brain (the optic nerve). These eye problems lead to vision impairment in affected individuals. ... MD syndrome HARD syndrome Hydrocephalus, agyria, and retinal dysplasia MDDGA ... eye anomalies), type A Muscular dystrophy-dystroglycanopathy [with brain ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  9. Combined pituitary hormone deficiency 
    ... Some affected individuals have eye disorders. These include optic nerve hypoplasia, which is a disorder that affects the nerves that carry visual information from the eyes to the brain. The signs and symptoms of ...
    https://medlineplus.gov/.../combined-pituitary-hormone-deficiency - Genetics
  10. PROKR2 gene 
    ... Health Condition MedlinePlus Genetics provides information about Septo-optic dysplasia More About This Health Condition A few mutations ...
    https://medlineplus.gov/genetics/gene/prokr2 - Genetics
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