PCSK5 and syndrome caused by partial chromosomal deletion: All these cases share the deletion of our patients from the genomic position 75505408 to 80890936 (in GRCh37), which involves at least the genes RORB, TRPM6, PCSK5, and PRUNE2. Thanks to this group, we explore the phenotypes related to very large deletions, which include other genes outside the four previous genes thought to be candidates for the phenotype of 9q21.13 microdeletion syndrome.