Bochdalek, Morgagni, and central (septum transversum) diaphragmatic hernia, with hypoplasia of the lung due to decreased thoracic volume resulting in compromised pulmonary capacity and often in neonatal death
the CDH minimal deleted region on 15q26 contains NR2F2 and only eight other known genes
terminal or interstitial 15q26 deletion with a critical region of 5Mb
There is evidence for substantial genetic heterogeneity in CDH.
Diaphragmatic hernias can be non-penetrant in patients who have deletions involving CDH-critical regions