MYH9 gene mutations may result in MYH9-related disease (MYH9-RD), which is characterized by symptoms including macrothrombocytopenia, leukocyte inclusion bodies, nephritis, visual defects, and hearing loss (Kelley et al. 2000; Lalwani et al. 2000; Seri et al. 2000; Kunishima et al. 2001; Seri et al. 2002, 2003). The gene discussed is MYH9; the disease is Macrothrombocytopenia.