A rare, autosomal-dominant inherited disorder that presents as a combination of thrombocytopenia, giant platelets, and leukocyte inclusions. It is among a group of disorders caused by mutations of the MYH9 gene. Patient may appear asymptomatic or experience minor bleeding occurrences (epistaxis, menorrhagia, easy bruising, hematuria, hematoma).

MYH9 gene mutations also cause sensorineural deafness, Fechtner syndrome, and May-Hegglin anomaly.