Term Name: | glycogen storage disease XV |
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Synonyms: | Glycogen storage disease 15, glycogen storage disease type XV, Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency |
Definition: | A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1. |
Ontology: | Human Disease [DOID:0050579] ( DOID:0050579 ) |