Figure 4.

Correlations between phenotypes and genes disrupted in subjects harboring pathogenic BCAs.

For each gene, the phenotypes reported in the corresponding subject were digitalized using HPO¹⁸. One tile represents the normalized count of HPO terms belonging to each organ category reported in the subject(s). Genes clustered together when sharing similarly affected organs, from which five groups can be delineated: 1- genes associated with multiple nervous system and craniofacial abnormalities (dark blue); 2- genes connected to multiple neurological phenotypes (pink); 3- genes associated with craniofacial abnormalities and a few neurological symptoms (black); 4- genes associated with skeletal and limb abnormalities, and with limited neurological involvement (green); 5- genes without neurological involvement (light blue).