Heterozygous pathogenic and likely pathogenic variants (all missense alleles) in ACTG2 therefore solved 7 out of 76 (9.2%) VM patients and were associated with phenotypes related to CIPO and MMIHS (Fig. 1B, C). The gene discussed is ACTG2; the disease is megacystis-microcolon-intestinal hypoperistalsis syndrome 1.