Results
A total of 10 variants of 7 genes were detected, including 2 pathogenicity variant, 4 likely pathogenicity variant and 4 uncertain significance variant. Four families were accepted as positive results, with a definite diagnosis rate of 28.6% (4/14). Case 1 was type 4 of autosomal dominant polycystic kidney disease caused by complex heterozygous variation of PKHD1 gene, Case 2 was Alagille syndrome caused by heterozygous variation of JAG1 gene, Case 5 and Case7 were type 3 of short rib dysplasia caused by complex heterozygous variation of DYNC2HI gene.