, recently reported a boy with the phenotypic spectrum, including atrial and ventricular septal defects, developmental delay, facial dysmorphism, primary neutropenia, branchial anomalies, and complex genital anomalies, inherits a MEIS2 p.R333del mutation from his unaffected father with a low-level mosaicism [19]. Here, MEIS2 is linked to ventricular septal defect 1.