Figure 6.

Genotype-phenotype association analysis of WDR45-related NDD. (A) Frequencies of reported Human Phenotype Ontology ancestor terms derived phenotypic features stratified for predicted variant effects (n_{Protein loss} = 129/160, n_{Residual protein function} = 18/116). Frequencies greater than 20% are printed on the respective bars. No significant differences were detected. Statistical testing was done using Pearson’s Chi-squared test or Fisher’s exact test (in case of less than 5 counts per subgroup). (B and C) Age at first report of early and late manifestations stratified by predicted mutational effects. (B). First report of ndevelopmental delay (n_{Protein loss} = 30, n_{Residual protein function} = 4), epileptic seizures (n_{Protein loss} = 68, n_{Residual protein function} = 9) and epileptic spasms (n_{Protein loss} = 14, n_{Residual protein function} = 2). (C). First report of brain iron deposition (n_{Protein loss} = 52, n_{Residual protein function} = 7), movement disorders (n_{Protein loss} = 63, n_{Residual protein function} = 11), developmental regression (n_{Protein loss} = 23, n_{Residual protein function} = 4) and mental deterioration (n_{Protein loss} = 30, n_{Residual protein function} = 4). Age is depicted in years. The median age at presence of specific symptoms is marked by dashed lines. No significant differences were detected. Statistic testing was done using the Mann-Whitney U test.