While mutations in individual genes have been linked to syndromic forms of CDH—such as LRP2 mutations causing Donnai–Barrow syndrome, and mutations in GATA4, T-box transcription factor 4 (TBX4), and paired-like homeobox 2b (PHOX2B) contributing to other syndromic forms—only one case of apparently isolated CDH has been associated with a de novo mutation in the major gene ZFPM2 zinc finger protein, FOG family member 2 (FOG2) [58,59,60,61]. Here, GATA4 is linked to congenital diaphragmatic hernia.