Mesh term Glycogen Storage Disease Type IIb
Browse to parent terms:Cardiomyopathies
Genetic Diseases, X-Linked
Glycogen Storage Disease
Mental Retardation, X-Linked
Description
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.Search for this term in our Faculty Database
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