Additionally, eight were syndromic patients: four with Noonan syndrome (PTPN11 and biallelic LZTR1), two with Danon disease (LAMP2), two with Carvajal syndrome (DSP), and one with atypical glycogen storage disease (PRKAG2). The gene discussed is PRKAG2; the disease is Glycogen storage disease due to glycogenin deficiency.