Fig. 3

Age of achievement for milestones ‘walking independently’ and ‘using two-word sentences’ in participants who were at least 12 months of age. Deletions smaller than 7.1 Mb include subgroups T-PSMB1, T-DLL1, T-AFDN and T-PDE10A. Deletions larger than 7.1 Mb include subgroups T-QKI, T-PRKN, T-MAP3K4 and T-R. Light grey bars indicate the number of children (x axis) that have reached the milestones ‘walking independently’ (upper panel) and ‘using two-word sentences’ (lower panel) before the given age (y axis, years). The dark grey bars are the children who were not able to perform the milestone at that age. The hatched bars are the children who were not able to perform the milestone, but who have not yet reached the age on the y axis. For example, at age 12 years, 29–47 (60–98%) participants are able to walk (figure and description adapted from Engwerda, et al. 2018. [4])