Extended Data Figure 3.

Phenotypic summary of individuals with de novo mutations in genes achieving genomewide significance. Phenotypes are grouped by type. The first group indicates counts of individuals with DNMs per gene by sex (m: male, f: female), and by functional consequence (nsv: nonsynonymous variant, PTV: protein-truncating variant). The second group indicates mean values for growth parameters: birthweight (bw), height (ht), weight (wt), occipitofrontal circumference (OFC). Values are given as standard deviations from the healthy population mean derived from ALSPAC data. The third group indicates the mean age for achieving developmental milestones: age of first social smile, age of first sitting unassisted, age of first walking unassisted and age of first speaking. Values are given in months. The final group summarises Human Phenotype Ontology (HPO)-coded phenotypes per gene, as counts of HPO-terms within different clinical categories.