Of the identified missense variants, 17% (4/23) could be filtered out as mutations in these genes cause other conditions that were not phenotypically expressed by our probands (BMPER-diaphanospondylodysostosis with AR inheritance; GLI3-mainly developmental disorders with AD inheritance pattern; ERBB3-lethal congenital contracture syndrome 2, and PTCH1-Gorlin syndrome). The gene discussed is BMPER; the disease is diaphanospondylodysostosis.