- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:20004786)
- Heat intolerance (HP:0002046): The inability to maintain a comfortable body temperature in warm or hot weather. Evidence: TAS. (OMIM:612782)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: IEA. (OMIM:612782)
- 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: PCS. Frequency: 6/6. (PMID:20004786)
- Gowers sign (HP:0003391): A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. Evidence: TAS. (OMIM:612782)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 4/6. (PMID:20004786)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 5/6. (PMID:20004786)
- Hypoplasia of the thymus (HP:0000778): Underdevelopment of the thymus. Evidence: PCS. Frequency: 3/6. (PMID:20004786)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 0/6. (PMID:20004786)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: TAS. (OMIM:612782)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: PCS. Frequency: 4/6. (PMID:20004786)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 0/5. (PMID:20004786)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 1/5. (PMID:20004786)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. (OMIM:612782)
- BCGitis (HP:0020086): Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. Evidence: PCS. Frequency: 1/6. (PMID:20004786)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 2/6. (PMID:20004786)
- Recurrent aphthous stomatitis (HP:0011107): Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. Evidence: TAS. (OMIM:612782)
- Stomatitis (HP:0010280): Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. Evidence: IEA. (OMIM:612782)
- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: PCS. Frequency: 2/6. (PMID:20004786)
- Ectodermal dysplasia (HP:0000968): Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. Evidence: PCS. Frequency: 2/2. (PMID:20004786)
- Abnormal total natural killer cell count (HP:0040089): Abnormal increase or decrease of total natural killer (NK) cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, in the blood, per microlitre, or altered NK cell phenotype, compared to a reference range for a given sex and age-group, measured ex vivo. Evidence: PCS. Frequency: 0/4. (PMID:20004786)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:20004786)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: IEA. (OMIM:612782)
- Respiratory insufficiency due to muscle weakness (HP:0002747). Evidence: TAS. (OMIM:612782)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 0/5. (PMID:20004786)
- 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: PCS. (PMID:20004786)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 3/6. (PMID:20004786)
These phenotypes are associated with the disease combined immunodeficiency due to ORAI1 deficiency (OMIM:612782).