KIF7 and Joubert syndrome: Biallelic pathogenic KIF7 variants cause the ciliopathies acrocallosal syndrome (agenesis of the corpus callosum, polydactyly, dysmorphic features) and Joubert syndrome (intellectual disability, hypotonia and cerebellar malformations), but have not been reported in short-rib thoracic dysplasia syndromes34,35.