Definitive diagnosis* |
Male patient with congenital thrombocytopenia (less than 70,000 platelets/mm3), small platelets, and at least one of the following: |
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Probable diagnosis* |
Male patient with congenital thrombocytopenia (less than 70,000 platelets/mm3), small platelets, and at least one of the following: |
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Possible diagnosis* |
Male patient with thrombocytopenia (less than 70,000 platelets/mm3) and small platelets, or male patient splenectomized for thrombocytopenia, who has at least one of the following: |
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mRNA: messenger ribonucleic acid; WAS: Wiskott-Aldrich syndrome; WASP: WAS protein; XLN: X-linked neutropenia.
* Patients with a definitive or probable diagnosis are assumed to have a greater than 98 and 85% probability, respectively, that in 20 years they will still have the same diagnosis. Patients with a possible diagnosis are those that have some but not all of the characteristic clinical or laboratory findings of a particular disorder.