“…9,64 Many ciliopathies have significant neurological features, most frequently mental retardation and CNS structural abnormalities, 48,52,64 but recent associations with psychiatric disorders, including schizophrenia, have been suggested. 65,66 A classical neurodevelopmental ciliopathy, Joubert syndrome and related cerebellar disorders, is a genetically and phenotypically heterogeneous group of ciliopathies, involving at least eight different genes, and characterised by a specific form of cerebellar vermis hypoplasia and abnormal superior cerebellar peduncles. 2,15,64 The clinical manifestations include hypotonia, neurodevelopemental delay, ataxia, occulomotor and speech apraxia, and neonatal dysregulation of breathing patterns.…”