The patient blood sample was sent to Fulgent Genetics to perform sequencing and deletion/duplication analysis on other genes associated with MMIHS: LMOD1,MYH11, MYLK, and MYL9 (Gauthier et al., 2015; Halim, et al., 2017; Halim, et al., 2017; Moreno et al., 2018). The gene discussed is MYL9; the disease is megacystis-microcolon-intestinal hypoperistalsis syndrome 1.