Variants
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Glycogen storage disease

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Description

An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.

NCI

  • Mode of Inheritance

    VARIANTS

    7

    SEE THE VARIANTS →

    Genes

    External Links

    • OMIM
    • Orphanet

      79201

    • HPO
    • Medgen

      C0017919

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