MTCP1 and Moyamoya disease: Fujita et al. (2012) reported three patients with severe hemophilia with atypical intron 22 inversions and large deletions of F8. In two of the patients, the deletion encompassed genes other than F8 (Supplementary Table S11). Evaluations for moyamoya disease or HH were not reported in either patient. Genetic evaluation revealed a microdeletion involving exons 1–22 of F8 and the entirety of FUNDC2, CMC4, and MTCP1 in both patients. The deletion extended past BRCC3 in one of them (Supplementary Table S11).