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References OMIM Gene GeneReviews HGMD HGNC
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