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GENATLAS PHENOTYPE
last update : 02-02-2009
Symbol VWM2
Location 14q24
Name leukoencephalopathy with vanishing white matter, type 2
Corresponding gene EIF2B2
Main clinical features
  • onset in childhood and chronic progressive and episodic course
  • presence of extensive cystic degeneration of the cerebral white matter with reactive changes and a preserved cortex
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name eukaryotic translation initiation factor 2B, subunit 2 beta,
    Remark(s)