- Chronic otitis media (HP:0000389): Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Recurrent fungal infections (HP:0002841): Increased susceptibility to fungal infections as manifested by multiple episodes of fungal infection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Recurrent viral infections (HP:0004429): Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Hypoplasia of the iris (HP:0007676): Congenital underdevelopment of the iris. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Hypocalcification of dental enamel (HP:0011084): A form of hypomineralization of enamel characterized by reduced calcification. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Recurrent mycobacterial infections (HP:0011274): Increased susceptibility to mycobacterial infections as manifested by recurrent episodes of mycobacterial infection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:169090)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:169090)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:169090)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:169090)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:169090)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:169090)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:169090)
- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:169090)
These phenotypes are associated with the disease Combined immunodeficiency due to CRAC channel dysfunction (ORPHA:169090).