Notably, variations in the SOX18 gene have previously been involved in hypotrichosis–lymphedema–telangiectasia syndrome as well as aortic dilation, pulmonary hypertension, dysmorphic face, renal failure, hydrocele, chylothorax, dysplastic nails, and cutis marmorata in humans [99]. Here, SOX18 is linked to testicular hydrocele.