Polymicrogyria, which was found in combination of the “molar tooth” sign and pontocerebellar hypoplasia in patient 2, is a rare finding in ciliopathies, but seem typical of short-rib-polydactyly (SRP) associated with KIAA0586. [3,15] The phenotype associated with the KIAA0586 c.1815G>A variant is quite peculiar with micropolygyria, partially connecting the skeletal anomalies of SRP, the oral anomalies of OFD and the cerebellar malformations of Joubert syndrome (Table 2). Here, KIAA0586 is linked to Joubert syndrome.