Three of these individuals had cryptorchidism and their genomic deletions also included EHBP1 and WDPC. Other genitourinary anomalies of the three patients with cryptorchidism were variable including absent prepuce, micropenis, discontinuous raphe, penile cyst, hypoplastic scrotum, kidney stones or small testes. Here, EHBP1 is linked to cryptorchidism.