Long after the discovery of the DIAPH1 mutation as the cause of DFNA1, affected individuals were found to present asymptomatic thrombocytopenia and, sometimes, asymptomatic mild neutropenia (Figure 2, Supplementary Table S3), which consists of abnormally low levels of neutrophils in the blood. The gene discussed is DIAPH1; the disease is Decreased total neutrophil count.