Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies

CDK20 is a ciliary kinase not previously linked to human disease. Lemire et al. report seven individuals with bi-allelic CDK20 variants, midline brain and facial anomalies, and impaired cilium formation and Hedgehog responsiveness, establishing CDK20 loss of function as a cause of severe ciliopathy.