Although sequencing of TMEM80 and TMEM218 in a large cohort of patients with JBTS-related phenotypes did not identify pathogenic mutations, the possibility that such mutations represent a rare cause of OFD6 cannot be excluded at present, especially since the number of OFD6 patients in our cohort is quite low due to the rarity of this condition (17 probands). Here, TMEM218 is linked to Joubert syndrome.