Another proband had an OFC of +6.31 SD and pathogenic variants in PPP2R5D (MIM: 616355) and FGFR3 (MIM: 602849), both of which are linked with macrocephaly (mean OFC of +2.3 SD and +0.2 SD for DDD probands with single diagnoses in these two genes, respectively). This evidence concerns the gene FGFR3 and Macrocephaly.