PAX2 and congenital anomaly of kidney and urinary tract: Furthermore, other studies have shown that PAX2 heterozygous variants are present in cases of isolated renal hypoplasia and other congenital anomalies of the kidney and urinary tract, including renal and ureteral anomalies with or without ocular abnormalities (CAKUT, OMIM #120330), and adult-onset focal segmental glomerulosclerosis (FSGS7, OMIM #616002) [6,7,8].