CMC4 and hemophilia A: Lavin et al. (2016) described a 37-year-old man with hemophilia A, who presented with left knee arthropathy and was noted to have short stature, sparse body hair, gynecomastia, prematurely gray hair, and unilateral proptosis. He was also found to have HH and a posterior communicating artery aneurysm on brain imaging. He was described as having SHAM syndrome (Table 2). Genetic evaluation revealed a 201 kb deletion of Xq28 that removed exons 1–14 of F8 and the entirety of FUNDC2, CMC4, MTCP1, and BRCC3 (Supplementary Table S11).