The cardinal symptom in<unk>  is thrombocytopaenia with giant platelets (macrothrombocytopenia). A peripheral blood smear is taken from the patient and a light microscope is used to these identify giant platelets. Leukocyte inclusions are also examined for, because approximately 41.1% of R207 mutations have leukocyte inclusions. These are often abnormal neutrophils with a small size of approximately less than 0.7 um and have an abnormal location on the non-muscle myosin heavy chain IIA (NMMHC-II). These inclusion bodies have RNA and no DNA. RNA in these inclusion bodies can be located in immunofluorescence analysis with the anti nonmuscle heavy chain IIA antibody. Hematology analysers or a hemocytometer can be used to determine the amount of platelets. A sample of blood is drawn from a patient's arm. A small amount of platelets in blood smears compared to the normal range of 150,000 to 450,000 platelets in microliter of blood suggest thrombocytopaenia, which is a common symptom in<unk> . A urine sample is often collected where a urinalysis can be used to determine the volume of proteins excreted in urine. Abnormal amounts of protein detected means the patient has proteinuria. Patients with<unk>  often have large proteinuria where they excrete above 3.5g of protein in their urine in a day. This is one of the initial signs of renal disease. Easy bruising and abnormal bleeding tendencies are also described in initial diagnosis. This supports the common misdiagnosis for chronic idiopathic thrombocytopaenia purpura in patients with<unk> . These symptoms are often noticed in early childhood due to the congenital cause of the disease.
Epstein syndrome
Cortes Lacassie syndrome
Nezelof syndrome
Van Gogh syndrome
Townes–Brocks syndrome
Van Den Bosch syndrome
Heerfordt syndrome
Koolen–De Vries syndrome