Figure 5.

Distribution of head circumference among individuals with CM1

(A) Head circumference in CM1-affected subjects without CHD gene variants (light pink or light blue), CM1-affected subjects with presumed inherited CHD variants (dark pink or dark blue), and individuals with de novo CHD8 LoF variants (dark blue, white fill).

(B) Analysis of standardized head circumference values for individuals with CM1 reveal significantly increased head circumference across ages in both male and female individuals with CM1, with an apparent bimodal distribution or kurtosis toward larger head circumference. p values are for Wilcoxon rank-sum tests comparing the distribution of age corrected observed head circumference to expected.