Figure 3.

Rarest clinical features in individuals with NAE1 variants

Dot plot showing features with occurrence ratio >0.5 in individuals with NAE1 variants. Color coding refers to the percentage of individuals in our cohort experiencing a specific symptom. Dot size refers to the number of associated genes in HPO, transformed with −10log to give features with the lowest amount of associated genes the largest dot size. The occurrence ratio was calculated by dividing the percentage of individuals experiencing a specific symptom by the number of associated genes.