Abstract CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12). combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3... https://www.chiggate.com/