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Results 1 - 10 of 41 for Leukoencephalopathy with vanishing white matter 5
  1. Megalencephalic leukoencephalopathy with subcortical cysts 
    ... function, causing the signs and symptoms of megalencephalic leukoencephalopathy with subcortical cysts.Approximately 5 percent of people with megalencephalic leukoencephalopathy with subcortical ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  2. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 
    ... Wegner A, Sriram S, Pawate S. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation. J Neurol. 2013 ...
    https://medlineplus.gov/...-with-axonal-spheroids-and-pigmented-glia - Genetics
  3. CSF1R gene 
    ... Wegner A, Sriram S, Pawate S. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation. J Neurol. 2013 ...
    https://medlineplus.gov/genetics/gene/csf1r - Genetics
  4. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 
    ... methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy. Ann Neurol. 2004 Nov;56(5):727-30. doi: 10.1002/ana.20280. Citation ...
    https://medlineplus.gov/...oxy-3-methylglutaryl-coa-lyase-deficiency - Genetics
  5. RNAse T2-deficient leukoencephalopathy 
    ... Lenard HG, Aksu F, Gartner J. A new leukoencephalopathy with bilateral anterior temporal lobe cysts. Neuropediatrics. 1998 Oct;29(5):225-8. doi: 10.1055/s-2007-973566. ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics
  6. POLR3B gene 
    ... Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j.ajhg.2011. ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
  7. POLR3A gene 
    ... Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j.ajhg.2011. ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  8. EIF2B5 gene 
    ... stress, resulting in the signs and symptoms of leukoencephalopathy with vanishing white matter. ... factor 2B, subunit 5 (epsilon, 82kD) eukaryotic translation initiation factor 2B, subunit ...
    https://medlineplus.gov/genetics/gene/eif2b5 - Genetics
  9. RNASET2 gene 
    ... R, Nurnberg P, Gartner J. RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet. 2009 Jul;41(7):773-5. doi: 10.1038/ng.398. Epub 2009 Jun ...
    https://medlineplus.gov/genetics/gene/rnaset2 - Genetics
  10. NFU1 gene 
    ... M, Farina L, Ghezzi D, Moroni I. Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations. Front Genet. 2014 Nov 20;5:412. doi: 10.3389/fgene.2014.00412. eCollection ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
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