This observation of phenotypic discrepancies in CHD may be explained by the following three aspects: first, the cases we collected focused on CHD rather than syndromes caused by PTPN11 mutations; second, the CHD phenotype may vary in different regions and races/ethnicities; and third, nongenetic factors, such as genetic heterogeneity, varied penetrance, a wide range of expressivity, and other influences, may have an impact on phenotypic development [28, 32]. The gene discussed is PTPN11; the disease is coronary artery disorder.