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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) |