Fig. 1

Fig. 1 Families with bi-allelic variants in CELSR3 and clinical images.

a Pedigrees of six families (1–6) with a predominant central nervous system (CNS) phenotype. b Pedigrees of three families (7–9) with combined CNS phenotype and congenital anomalies of the kidneys and urinary tract (CAKUT), and two families (10, 11) with CAKUT only. The evolutionary conservation of the affected sequence (bp) was estimated with the ConSurf server from variable (green) to conserved (purple). Asterisks: Position of the respective variants. The arrows indicate probands. Filled shapes should reflect affected status. c Brain magnetic resonance image (MRI) of 4: II-3 showing pachygyria. d Photograph of 6: II-1 showing a congenital hairy melanocytic nevus with a diameter of 0.1 to 0.15 meter at the level of the lower lumbal spine. Radiologic imaging of the spine was not performed here. e Photograph of 8: II-1 showing macrocephaly, high and prominent forehead and very small and low-set ears. f MRI of 9: II-1. Arrow: Chiari malformation type 1 (cerebellar tonsillar herniation).