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Results 1 - 10 of 75 for Optic atrophy 2
  1. MFN2 gene 
    ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A MITOFUSIN 2; MFN2 NCBI Gene ClinVar Ando M, Hashiguchi A, ... V, Shy M, Vance JM. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol. 2006 Feb;59(2):276-81. ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  2. OPA1 gene 
    ... V. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain. 2008 Feb;131(Pt 2):338-51. doi: 10.1093/brain/awm298. Epub ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  3. Optic atrophy type 1 
    ... and mitochondrial fusion. Brain. 2008 Feb;131(Pt 2):352-67. doi: 10.1093/brain/awm335. Citation on PubMed
    https://medlineplus.gov/genetics/condition/optic-atrophy-type-1 - Genetics
  4. Costeff syndrome 
    ... KM. 3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome. Dev Med Child Neurol. 1994 Feb;36(2):167-72. doi: 10.1111/j.1469-8749. ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  5. Wolfram syndrome 
    ... optic atrophy and deafness Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness DIDMOAD DIDMOAD syndrome DIDMOADUD Genetic Testing Registry: Wolfram syndrome Genetic Testing Registry: Wolfram syndrome 2 Wolfram syndrome National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
  6. Spastic paraplegia type 2 
    ... with the complex form of spastic paraplegia type 2 have lower limb spasticity ... degeneration (atrophy) of the optic nerves, which carry information from ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2 - Genetics
  7. Multiple system atrophy 
    ... also include speech difficulties (dysarthria) and problems controlling eye movement.Multiple system ... people. Multiple system ...
    https://medlineplus.gov/genetics/condition/multiple-system-atrophy - Genetics
  8. WFS1 gene 
    ... gene as a frequent cause of autosomal dominant optic atrophy and hearing ... and WFS1 gene. Clin Genet. 2011 Feb;79(2):103-17. doi: 10.1111/j.1399-0004. ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics
  9. FA2H gene 
    ... in this gene resulting in intellectual decline and optic nerve atrophy were said to have a disorder called FA2H-related leukodystrophy. However, these ... ClinVar Alderson NL, Rembiesa ...
    https://medlineplus.gov/genetics/gene/fa2h - Genetics
  10. Triosephosphate isomerase deficiency 
    ... of the skin and the whites of the eyes.Movement problems typically become ... (atrophy) and causes the movement problems typical of triosephosphate ...
    https://medlineplus.gov/.../triosephosphate-isomerase-deficiency - Genetics
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