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GENATLAS PHENOTYPE
last update : 02-02-2009
Symbol VWM4
Location 2p23.3
Name leukoencephalopathy with vanishing white matter, type 4
Corresponding gene EIF2B4
Main clinical features
  • onset in childhood and course chronic, progressive, and episodic and presence of extensive cystic degeneration of the cerebral white matter with reactive change and a preserved cortex
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)