Figure 2

Extraneurological organ-system involvement in our cohort with Joubert syndrome (JS). (a) Prevalence of kidney disease, liver disease, chorioretinal coloboma, retinal degeneration, and polydactyly in our cohort with JS. (b) Prevalence of combinations of extraneurological organ-system disease with causative genes indicated. (c) Prevalence of extraneurological manifestations in patients with JS with mutations in the six most common JS genes in our cohort. CNS, central nervous system.