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Results 1 - 10 of 49 for Leukoencephalopathy with vanishing white matter 3
  1. 3-methylglutaconyl-CoA hydratase deficiency 
    ... deficiency in childhood often go on to develop leukoencephalopathy and other neurological problems in adulthood.All people with 3-methylglutaconyl-CoA hydratase deficiency accumulate large amounts of ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  2. CLCN2-related leukoencephalopathy 
    ... Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations. Eur Neurol. 2017;78(3-4):125-127. doi: 10.1159/000478089. Epub ...
    https://medlineplus.gov/.../clcn2-related-leukoencephalopathy - Genetics
  3. Megalencephalic leukoencephalopathy with subcortical cysts 
    ... only mild to moderate intellectual disability.There are three types of megalencephalic leukoencephalopathy with subcortical cysts, which are distinguished by their ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  4. RNAse T2-deficient leukoencephalopathy 
    ... MM, Lin J, Masruha MR, Vilanova LC. Cystic leukoencephalopathy without megalencephaly. Arq Neuropsiquiatr. 2008 Jun;66(2A):261-3. doi: 10.1590/s0004-282x2008000200027. No abstract available. ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics
  5. CSF1R gene 
    ... Morishita S, Tsuji S. CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet. 2012 ...
    https://medlineplus.gov/genetics/gene/csf1r - Genetics
  6. DARS1 gene 
    ... van der Knaap MS, Vanderver A. DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. Neurology. 2015 Jan 20;84(3):226-30. doi: 10.1212/WNL.0000000000001157. Epub ...
    https://medlineplus.gov/genetics/gene/dars1 - Genetics
  7. Hypomyelination with brainstem and spinal cord involvement and leg spasticity 
    ... van der Knaap MS, Vanderver A. DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. Neurology. 2015 Jan 20;84(3):226-30. doi: 10.1212/WNL.0000000000001157. Epub ...
    https://medlineplus.gov/...pinal-cord-involvement-and-leg-spasticity - Genetics
  8. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 
    ... Morishita S, Tsuji S. CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet. 2012 ...
    https://medlineplus.gov/...-with-axonal-spheroids-and-pigmented-glia - Genetics
  9. AUH gene 
    ... type I redefined: a syndrome with late-onset leukoencephalopathy. Neurology. 2010 Sep 21;75(12):1079-83. doi: 10.1212/WNL.0b013e3181f39a8a. Citation on PubMed
    https://medlineplus.gov/genetics/gene/auh - Genetics
  10. MLC1 gene 
    ... Bertini E, Santorelli FM, Estevez R. Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. Hum Mutat. 2006 Mar;27(3):292. doi: 10.1002/humu.9407. Citation on ...
    https://medlineplus.gov/genetics/gene/mlc1 - Genetics
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