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Results 1 - 10 of 65 for Leukoencephalopathy with vanishing white matter 1
  1. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 
    ... Genetic Testing Registry: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 Nasu-Hakola disease National Organization for Rare Disorders ( ...
    https://medlineplus.gov/...lasia-with-sclerosing-leukoencephalopathy - Genetics
  2. MLC1 gene 
    ... More About This Health Condition KIAA0027 LVM megalencephalic leukoencephalopathy with subcortical cysts 1 gene product MLC MLC1_HUMAN VL Tests of ... regulated anion currents. Hum Mol Genet. 2013 Nov 1;22(21):4405-16. doi: ... leukoencephalopathy with subcortical cysts: an update and extended mutation ...
    https://medlineplus.gov/genetics/gene/mlc1 - Genetics
  3. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 
    ... Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy National ...
    https://medlineplus.gov/...cortical-infarcts-and-leukoencephalopathy - Genetics
  4. Megalencephalic leukoencephalopathy with subcortical cysts 
    ... leukoencephalopathy with subcortical cysts Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts National Organization for ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  5. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 1; HDLS1 PubMed Ali ZS, Van Der Voorn JP, ...
    https://medlineplus.gov/...-with-axonal-spheroids-and-pigmented-glia - Genetics
  6. Leukoencephalopathy with vanishing white matter 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1; VWM1 PubMed Dietrich J, Lacagnina M, Gass D, ...
    https://medlineplus.gov/...ncephalopathy-with-vanishing-white-matter - Genetics
  7. TREX1 gene 
    ... Tests of TREX1 PubMed VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS; RVCLS 3-PRIME REPAIR EXONUCLEASE 1; TREX1 CHILBLAIN LUPUS 1; CHBL1 NCBI Gene ClinVar ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  8. CSF1R gene 
    ... Wszolek ZK. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2011 Dec 25;44( ...
    https://medlineplus.gov/genetics/gene/csf1r - Genetics
  9. HEPACAM gene 
    ... E, Estevez R. Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations. Neurogenetics. 2014 Mar;15(1):41-8. doi: 10.1007/s10048-013-0381- ...
    https://medlineplus.gov/genetics/gene/hepacam - Genetics
  10. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... syndrome Oculogastrointestinal muscular dystrophy OGIMD POLIP Polyneuropathy, ophthalmoplegia, ... syndrome 1 Genetic Testing Registry: Mitochondrial DNA depletion syndrome 4b ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
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