These autosomal dominant NMIIA mutations result in various MYH9-related disorders (MYH9-RD), including May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome and Sebastian syndrome; the hallmark features of which are fewer, but giant, platelets (referred to clinically as macrothrombocytopenia) and leukocyte inclusions. The gene discussed is MYH9; the disease is macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss.