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GENATLAS PHENOTYPE
last update : 02-02-2009
Symbol VWM5
Location 1p34.1
Name leukoencephalopathy with vanishing white matter, type 5
Corresponding gene EIF2B3
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)