Nevertheless, nine heterozygous or hemizygous gene mutations were selected as possible pathogenic genes, such as SEMA3E, INVS, CBL, FRAS1, and AR. However, the phenotypic–genotypic linkage relationship has not yet been proven between these genes and hypospadias/CAVD patients. Here, INVS is linked to congenital bilateral aplasia of vas deferens from CFTR mutation.