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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)