The diagnosis of SIOD mainly relies on characteristic clinical and radiographic features followed by molecular testing (mainly single-gene testing and a multigene panel) if the clinical evidence is insufficient (Lipska-Zietkiewicz et al., 2017), while whole exome sequencing (WES) has seldom been applied to detect SMARCAL1 mutations (Morimoto et al., 1993). Here, SMARCAL1 is linked to Schimke immuno-osseous dysplasia.