Sixteen  of them had mutations in MASP1, 10 patients had mutations in COLEC11. While comparison of phenotypic features of patients with COLEC11 and MASP1 mutations would be speculative because of the limited number of patients, craniosynostosis and intellectual disability were reported in 27.2 and 28.5 % of patients with MASP1 mutations, respectively, while they were observed in 60 and 70 % of patients with COLEC11 mutations, respectively. Here, MASP1 is linked to craniosynostosis.