Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
glycogen storage disease IXb
MONDO:0009868
glycogen storage disease IXc
MONDO:0013091
glycogen storage disease IXa2
MONDO:0100439