Fig. 5

NODAL proband phenotypic similarity heatmap—A heatmap was generated using proband phenotypic similarity scores and ordered based on Hierarchical Agglomerative Clustering of proband phenotypic similarity. Dendrograms showing clusters are present at the left and top sides of the heatmap. Proband IDs and variants are shown at right and bottom, and color coded based on cluster. Five clusters are highlighted by color-coded boxes on the heatmap, from top left diagonally to bottom right: red, olive, green, teal, and purple. The 4 probands with biallelic variation group in one cluster (purple box). A key for phenotypic similarity score based on color (blue corresponding to a lower score and red corresponding to a higher score) is shown at bottom right. An asterisk denotes probands with biallelic variants in NODAL