lethal congenital glycogen storage disease of heart
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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. [ http://purl.obolibrary.org/obo/ECO_0007637 url:https://www.omim.org/entry/261740 url:https://ghr.nlm.nih.gov/gene/PRKAG2#conditions http://purl.obolibrary.org/obo/ECO_0007636 ]
Synonyms: fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis fatal congenital hypertrophic cardiomyopathy due to GSD phosphorylase kinase deficiency of heart