Mutations in genes encoding CSPP1 and its ciliary binding partners lead to defects in ciliogenesis and result in a range of ciliopathies, such as the neurodevelopmental disorder known as Joubert syndrome, or the more severe Meckel-Gruber syndrome with multiple developmental abnormalities (Akizu et al., 2014; Latour et al., 2020; Shaheen et al., 2014; Tuz et al., 2014). The gene discussed is CSPP1; the disease is Joubert syndrome.