In all the cases, diagnosis of MYH9-RD based on the findings of congenital thrombocytopenia, giant platelets, and identification of pathognomonic NMMHC-IIA leukocyte inclusions by immunofluorescence assay [19], and was confirmed by identification of the causative MYH9 mutation. This evidence concerns the gene MYH9 and Congenital thrombocytopenia.