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Congenital Disorder

Glycogen Storage Disease Type IIb

AMW:DIS:100492

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.

Pathology clinical
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Glycogen Storage Disease Type IIb has parent Cardiomyopathies
Glycogen Storage Disease Type IIb has parent Genetic Diseases, X-Linked
Glycogen Storage Disease Type IIb has parent Glycogen Storage Disease
Glycogen Storage Disease Type IIb has parent X-Linked Intellectual Disability

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