As several congenital abnormalities are recurrently observed in our patients with likely pathogenic variants, and developmental delays can be mild, the possibility of FOXP4 involvement should not only be considered in individuals with neurodevelopmental disorders but also in cohorts of individuals with multiple congenital abnormalities, in particular, congenital diaphragmatic hernia and/or vertebral abnormalities. Here, FOXP4 is linked to congenital diaphragmatic hernia.