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phosphorylase kinase deficiency of heart; glycogen storage disease of heart lethal congenital; congenital nonlysosomal cardiac glycogenosis
Epidemiology: rare
Genetics:
- associated with defects in PRKAG2
Clinical manifestations:
- death within a few weeks to a few months after birth, from heart failure & respiratory failure
General
glycogen storage disease (glycogenosis)
Database Correlations
OMIM 261740
References
OMIM :accession 261740