Glycogen Storage Disease Type IIb

**Definition:** 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.

**Tree numbers:** - C10.597.606.360.455.562 - C14.280.238.458 - C16.320.322.201 - C16.320.565.202.449.510 - C18.452.648.202.449.510

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