In human, the phenotypic spectrum of KIAA0586 mutations (the human ortholog of chicken talpid3) expands from embryonic lethal ciliopathies to pediatric ciliopathy symptoms including Joubert Syndrome (JBTS) (Akawi et al., 2015; Alby et al., 2015, 2016; Bachmann-Gagescu et al., 2015; Malicdan et al., 2015; Roosing et al., 2015; Stephen et al., 2015). The gene discussed is KIAA0586; the disease is Joubert syndrome.