Fig. 1

Pie chart showing the ciliopathies categories in our cohort and the relative contribution of specific genes to each category: Bardet–Biedl syndrome (BBS), Joubert syndrome (JBTS), acrocallosal syndrome (ACLS), Meckel–Gruber syndrome (MKS), oral–facial–digital syndrome (OFD), polycystic kidney disease (PKD), nephronophthisis (NPHP), Caroli disease, short rib thoracic dystrophy (SRTD), Ellis–van Creveld syndrome (EVCS).