Glycogen Storage Disease Type IIb

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An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.

Synonyms: Glycogen Storage Disease Type IIb, Pseudoglycogenosis 2, X Linked Vacuolar Cardiomyopathy and Myopathy, Pseudoglycogenosis IIs, Glycogen Storage Cardiomyopathies, Glycogen Storage Cardiomyopathy, Glycogen Storage Disease Type 2B, Disease, Antopol, Antopol Disease, Glycogen Storage Disease Limited to the Heart, Danon Disease, X-Linked Vacuolar Cardiomyopathy and Myopathy, Vacuolar Cardiomyopathy and Myopathy, X linked, Vacuolar Cardiomyopathy and Myopathy, X-linked, Cardiomyopathies, Glycogen Storage, Pseudoglycogenosis 2s, Glycogen Storage Disease IIb, Pseudoglycogenosis II, Lysosomal Glycogen Storage Disease with Normal Acid Maltase, Cardiomyopathy, Glycogen Storage, Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency