- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:444463)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:444463)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:444463)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:444463)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:444463)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:444463)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:444463)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:444463)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:444463)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:444463)
- Systemic lupus erythematosus (HP:0002725): A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:444463)
- Moderate global developmental delay (HP:0011343): A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:444463)
- Respiratory tract infection (HP:0011947): An infection of the upper or lower respiratory tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:444463)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:444463)
These phenotypes are associated with the disease Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency (ORPHA:444463).