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Results 1 - 10 of 52 for Optic atrophy 6
  1. WFS1 gene 
    ... gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. Am J Med Genet A. 2011 Jun;155A(6):1298-313. doi: 10.1002/ajmg.a.33970. ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics
  2. Costeff syndrome 
    ... methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001 Dec;69(6):1218-24. doi: 10.1086/324651. Epub 2001 ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  3. OPA3 gene 
    ... methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001 Dec;69(6):1218-24. doi: 10.1086/324651. Epub 2001 ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  4. OPA1 gene 
    ... isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene. J Neurol Sci. 2015 Apr 15;351(1-2):99-108. doi: 10.1016/j.jns.2015.02.047. Epub 2015 Mar 6. Citation on PubMed Schimpf S, Fuhrmann N, Schaich ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  5. Wolfram syndrome 
    ... symptom of Wolfram syndrome, usually diagnosed around age 6. Nearly everyone with Wolfram syndrome who develops diabetes mellitus requires insulin replacement therapy. Optic atrophy is often the next symptom to appear, usually ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
  6. Optic atrophy type 1 
    ... isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene. J Neurol Sci. 2015 Apr 15;351(1-2):99-108. doi: 10.1016/j.jns.2015.02.047. Epub 2015 Mar 6. Citation on PubMed Roubertie A, Leboucq N, Picot ...
    https://medlineplus.gov/genetics/condition/optic-atrophy-type-1 - Genetics
  7. Spastic paraplegia type 2 
    ... intellectual disability; involuntary, rhythmic shaking (tremor); and degeneration ... combined is estimated to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2 - Genetics
  8. Leber hereditary optic neuropathy 
    ... to their children. Hereditary optic neuroretinopathy Leber hereditary optic atrophy Leber optic atrophy Leber's hereditary optic neuropathy Leber's optic ...
    https://medlineplus.gov/.../leber-hereditary-optic-neuropathy - Genetics
  9. MFN2 gene 
    ... Am J Med Genet A. 2016 Jun;170(6):1580-4. doi: 10.1002/ajmg.a.37611. Epub 2016 Mar ... neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  10. Deafness-dystonia-optic neuronopathy syndrome 
    ... carry information from the eyes to the brain (optic atrophy). Affected individuals can develop an increased sensitivity to ... blindness, dystonia, fractures, and mental deficiency Deafness-dystonia-optic atrophy syndrome Jensen syndrome Mohr-Tranebjærg syndrome Opticoacoustic nerve ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
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