Prior to the identification of the underlying molecular cause, individuals with MYH9-related disease were variously diagnosed as having Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly or Sebastian syndrome (Heath et al., 2001; Newell-Litwa et al., 2015). This evidence concerns the gene MYH9 and macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss.