PKHD1 and polycystic kidney disease: For the genitourinary system, variants in 3 genes-PKHD1, JAG1, ACE- were identified in 5 cases, among which 3 cases were Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease (263,200) caused by PKHD1. In the remaining 2 cases, each was found with P/LP variants in JAG1 gene associated with Alagille Syndrome 1 (118,450), ACE gene associated with Renal Tubular Dysgenesis (267,430).