PAX2 and congenital anomaly of kidney and urinary tract: Consistently, KHD without or, less frequently, with cysts was a hallmark phenotype in 97% of pediatric patients with CAKUT and a PAX2 LOF variant from our cohort and the literature15,27, 28, 29,31, 32, 33, 34, 35, 36, 37, 38 compiled here, with a significantly higher prevalence compared with 59% in pediatric patients with CAKUT without a PAX2 LOF variant from our cohort.