In one patient, two missense variants in the AHI1 gene (NM_017651.5, NP_060121.3) were indicated as the most probable causative variants (c.1828C>T p.Arg610Ter and c.1829G>C p.Arg610Pro), indicating a possible genetic diagnosis of Joubert Syndrome type 3. Here, AHI1 is linked to Joubert syndrome 3.