In humans, mutations in MYH9 gene, which encodes the heavy chain, lead to autosomal dominant diseases collectively known as MYH9-related diseases (MYH9-RDs), which include May–Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndromes (185, 186). This evidence concerns the gene MYH9 and macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss.