Lesch-Nyhan syndrome is caused by the inactivation or deficiency of hypoxanthine-guanine phosphoribosyl-transferase (HGPRT), while JBTS is a cilia-related disease, which has not been previously associated with HGPRT abnormalities; hence, we suggested that both diseases occurred in one patient. Here, HPRT1 is linked to Joubert syndrome.