To date, liver involvement, including liver fibrosis (main feature), hepatomegaly, and the elevation of liver enzymes, is found in about 70%–80% of TMEM67-related JS, representing the strongest gene–phenotype association among all JS types (Iannicelli et al., 2010) (Tsurusaki et al., 2015) (Romani et al., 2013). The gene discussed is TMEM67; the disease is Hepatic fibrosis.