- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231393)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231393)
- Abnormal bleeding (HP:0001892): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231393)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231393)
- Abnormal platelet function (HP:0011869): Any anomaly in the function of thrombocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231393)
- Abnormal hemoglobin (HP:0011902): Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:231393)
These phenotypes are associated with the disease Beta-thalassemia-X-linked thrombocytopenia syndrome (ORPHA:231393).