Furthermore, our study outcomes revealed that among the 34 identified cases of situs inversus, no pathogenic or likely pathogenic mutations, including variants in currently reported genes such as NODAL, DNAH5, and CFAP53 [8], were identified through simultaneous Comparative Genomic Hybridization Microarray (CMA) or/and Whole Exome Sequencing (WES) analyses in 24 cases. The gene discussed is CFAP53; the disease is situs inversus.