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). The gene discussed is MYH9; the disease is autosomal dominant disease.