Beyond pituitary and limb defects, GLI2-related disorders have been linked to a range of systemic abnormalities, including renal anomalies (such as agenesis or dysplasia), urethral stenosis, congenital heart defects (e.g., atrial or ventricular septal defects), and neuroanatomical abnormalities including agenesis of the corpus callosum, periventricular venous system anomalies, and cortical gyration defects (2, 14, 25). This evidence concerns the gene GLI2 and ventricular septal defect 1.