For example, the different syndrome forms associated with thrombocytopenia known as May-Hegglin anomaly (MIM 155100), Epstein syndrome (MIM 153650), Fechtner syndrome (MIM 153650) and Sebastien syndrome (MIM 605249) are actually all caused by mutations in the MYH9 gene and hence represent differently expressed forms of a single genetic disease [12]. Here, MYH9 is linked to macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss.