Although in most cases the major clinical feature is abnormal bleeding, BPD are frequently associated with phenotypes in other organ systems, particularly the immune system (for example, Wiskott-Aldrich syndrome (WAS, ORPHA906)), skeleton (for example, Thrombocytopenia with Absent Radius syndrome (ORPHA3320)), eye (for example, Hermansky-Pudlak Syndrome (HPS, ORPHA79430)) and kidney (for example, MYH9-related disorder (MYH9-RD, ORPHA182050)). Here, MYH9 is linked to Hermansky-Pudlak syndrome.