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Results 1 - 7 of 7 for Optic atrophy 11
  1. MFN2 gene 
    ... carry information from the eyes to the brain (optic atrophy).It is unclear how MFN2 gene mutations lead ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A MITOFUSIN 2; MFN2 NCBI Gene ClinVar Ando ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  2. ATP1A3 gene 
    ... group of features: cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. This specific presentation is ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  3. FA2H gene 
    ... in this gene resulting in intellectual decline and optic nerve atrophy were said to have a disorder called FA2H- ...
    https://medlineplus.gov/genetics/gene/fa2h - Genetics
  4. TPP1 gene 
    ... rapid eye movements (saccades), and trouble moving the eyes side-to-side (oculomotor apraxia). People with SCAR7 have progressive loss of cells (atrophy) of various parts of the brain, particularly within ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  5. SMCHD1 gene 
    ... these cells, leading to progressive muscle weakness and atrophy.Studies ... of the usual 11 to 100 repeats. Researchers suspect that the combination ...
    https://medlineplus.gov/genetics/gene/smchd1 - Genetics
  6. FGFR3 gene 
    ... 417-31. doi: 10.1016/j.yexcr.2004.11.012. Epub 2004 Dec 16. Citation on PubMed ... bladder tumors. Clin Cancer Res. 2005 Nov 1;11(21):7709-19. doi: 10.1158/1078-0432. ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  7. CLPB gene 
    ... infections; and clouding of the lenses of the eyes (cataracts). In addition, affected individuals have an increased ... CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics