Notably, we observed correlations between PGSs and phenotypic severity of several RGDs previously reported to exhibit variable expressivity, including obesity caused by melanocortin 4 receptor deficiency (MC4R pathogenic variants), tall stature in 47,XXX and 47,XXY, and hypercholesterolemia caused by pathogenic LDLR variants2,35–37. The gene discussed is LDLR; the disease is familial hypercholesterolemia.