In terms of enrichment in the Jessen disease database, acrodysostosis (padjusted = 0.068) and dementia (padjusted = 0.068) were the most relevant diseases, involving PDE4D, Sortilin Related Receptor 1 (SORL1) and Parkin RBR E3 Ubiquitin Protein Ligase (PARK2) genes (Supplementary Figure S9). Here, PDE4D is linked to acrodysostosis.