This is the first reported MC-D2HGA case caused by germline IDH1 changes (with read depth over the IDH1 variant position of >  × 250 depth) though the author is aware of one unreported MC-D2HGA case caused by germline changes (Zankl A. [Presentation] 6th Nordic Workshop on Skeletal Dysplasia, Karolinska Institute, Sweden. The gene discussed is IDH1; the disease is dysplasia.