Figure 2. Frequencies and Modes of Inheritance in Multiple Molecular Diagnoses.

Panel A shows the percentage of all patients with two or more molecular diagnoses. Panel B shows the percentage of all diagnoses in patients with two or more molecular diagnoses, according to mode of inheritance and de novo status. AD denotes autosomal dominant, AR autosomal recessive, and XL X-linked. Panel C shows the percentage of patients with two molecular diagnoses represented by each combination of modes of inheritance. The contribution of de novo versus inherited variants is represented within each bar as percentages of diagnoses (not patients). Panel D shows the percentage of patients with two molecular diagnoses represented by each combination of modes of inheritance. The percentage of patients with one or two de novo variants contributing to diagnoses is indicated within each bar.