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Results 1 - 9 of 9 for Optic nerve dysplasia
  1. 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
  2. OTX2 gene 
    ... and early development of the eyes, the optic nerves, the pituitary gland, and other brain structures. These problems with development lead to the major features of septo-optic dysplasia, including eye abnormalities, underdevelopment of the pituitary gland ( ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  3. 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
  4. 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
  5. 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
  6. TUBB3 gene 
    ... cranial nerves) that control muscles that surround the eyes (extraocular muscles) are particularly affected, although other nerves can also be involved. Abnormal growth of cranial ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  7. TUBB2B gene 
    ... cranial nerves) that control muscles that surround the eyes (extraocular muscles) are particularly affected. Abnormal development of cranial nerves impairs the function of extraocular muscles, leading to ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  8. FBN1 gene 
    ... as bones and the tissues that support the nerves, muscles, and lenses of the eyes.Microfibrils store a protein called transforming growth factor ... Abnormal microfibrils weaken connective tissue, which causes the eye, heart, and skeletal ... About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  9. FGFR1 gene 
    ... known to cause a rare condition called osteoglophonic dysplasia. People with this condition show abnormal bone growth ... short stature. FGFR1 gene variants that cause osteoglophonic dysplasia will a change single amino acid in the ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics