The seven index cases with PV or LPV in MYH9 included six cases with terms indicating macrothrombocytes, six with terms indicating thrombocytopenia and one with neutrophil Döhle-bodies but none with other recognised features such as renal impairment, sensorineural deafness or cataract (Table 3). The gene discussed is MYH9; the disease is Thrombocytopenia.