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GENATLAS PHENOTYPE

last update : 03/11/2007

Symbol	GSD9B
Location	16q12-q13
Name	glycogen storage disease, type IX B
Corresponding gene	PHKB
Main clinical features	combinations of hypoglycaemia, hepatosplenomegaly, short stature, hepatopathy, weakness, fatigue and motor delay . biochemical findings included elevated lactate, urate and lipids . high variability phenotypic
Genetic determination	autosomal recessive
Function/system disorder	metabolism/carbohydrates
Type	disease