Lethal congenital glycogen storage disease of heart

MONDO:0009867

Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.

Also known as: PRKAG2 glycogen storage disease, fatal congenital hypertrophic cardiomyopathy due to GSD, fatal congenital hypertrophic cardiomyopathy due to glycogenosis, glycogen storage disease caused by mutation in PRKAG2, phosphorylase kinase deficiency of heart, fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease, glycogen storage disease of heart, glycogen storage disease of heart, lethal congenital

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