Fig. 5

Genetic and phenotypic relationships between patients. a Network of the patients associated with the 336 pathogenic PELs. It includes 830 patients (nodes) and 9606 pairwise relationships supported by genotype-phenotype associations (edges). Grey nodes indicate that patient PELs are associated with at least one known syndrome and red nodes indicate that patient PELs do not overlap with any known genomic syndrome. b Examples of known and novel PELs. Patients of PEL 52 that coincide with deletions associated with pulmonic stenosis (MIM 265500). PEL 1 and 2 are patients showing coincidences with the 13q14 deletion syndrome in which the most representative clinical feature is retinoblastoma (MIM 180200). PEL 52 is not associated with any known syndrome and it has patients showing split hand (HP:0001171) and duplications in 17p13.3