Genetic testing was negative for MKS1, RPGRIP1L, AHI1, CEP290, TMEM67/MKS3, GLI3, NPHP1, CC2D2A, TMEM216, and OFD1. He was felt to have a phenotype that overlapped Joubert syndrome, oral–facial–digital syndromes (OFDSs), and Pallister–Hall syndrome (Table 1) (Hall et al. 1980; Parisi and Glass 1993; Romani et al. 2013; Valente et al. 2013; Franco and Thauvin-Robinet 2016). Here, MKS1 is linked to Joubert syndrome.