Term Name:	lethal congenital glycogen storage disease of heart
Synonyms:	fatal congenital hypertrophic cardiomyopathy due to glycogenosis, fatal congenital hypertrophic cardiomyopathy due to GSD, fatal congenital nonlysosomal cardiac glycogenosis, phosphorylase kinase deficiency of heart
Definition:	A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36.
Ontology:	Human Disease [DOID:0090101]   ( DOID:0090101 )