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GENATLAS PHENOTYPE |
last update : 6/07/2006 |
Symbol | GSD0 |
Location | 12p12.1 |
Name | glycogen storage disease, type 0 |
Other name(s) | liver glycogen synthase deficiency |
Corresponding gene | GYS2 |
Other symbol(s) | GYS2 |
Main clinical features | fasting hyperketotic hypoglycemia |
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/carbohydrates |
Type | disease |
Gene product |
Name | glycogen synthase, liver (GYS2) |
Remark(s) |