Preliminary data show that SI113 may indeed have an effect on the development of the hydrocephalic phenotype in TMEM67−/− rats [202], suggesting that at least some of the phenotypes observed in MKS3 and Joubert syndrome may be the consequence of Sgk1 hyper-expression and that Sgk1 inhibition may be considered in the treatment of ciliopathies for which no drug therapy has been developed. Here, TMEM67 is linked to Joubert syndrome.