- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: PCS. Frequency: 1/1. (PMID:24332264)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: PCS. Frequency: 1/1. (PMID:24332264)
- Mastoiditis (HP:0000265): Infection of the mastoid air cells, arising as a complication of otitis media or occurring in the context of unusual susceptibility to infection. Evidence: PCS. Frequency: 2/2. (PMID:23727036)
- Recurrent lower respiratory tract infections (HP:0002783): An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. Evidence: PCS. Frequency: 2/2. Onset: Infantile onset (HP:0003593). (PMID:23727036)
- Recurrent lower respiratory tract infections (HP:0002783): An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. Evidence: PCS. Frequency: 1/1. (PMID:24332264)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 1/1. (PMID:24332264)
- Esophageal stricture (HP:0002043): A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. Evidence: PCS. Frequency: 1/1. (PMID:24332264)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 3/3. (PMID:23727036;PMID:24332264)
- Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295): The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 2/2. (PMID:23727036)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/3. (PMID:23727036;PMID:24332264)
- Absent circulating isohemagglutinin (HP:0410293): Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). Evidence: PCS. Frequency: 2/2. (PMID:23727036)
- Death in adolescence (HP:0011421): Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 16 years). Evidence: PCS. Frequency: 2/2. (PMID:23727036)
- 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: PCS. Frequency: 2/2. (PMID:23727036)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: PCS. Frequency: 1/1. (PMID:24332264)
- Abnormal lymphocyte count (HP:0040088): Any abnormality in the total number of lymphocytes in the blood. Evidence: PCS. Frequency: 0/2. (PMID:23727036)
- Decreased anti-CD3/28-induced T-cell proliferation (HP:0031382): Abnormal decrease of T cell proliferation in response to anti-CD3/28 stimulation. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation and strength of stimulation may vary between laboratories. Evidence: PCS. Frequency: 2/2. (PMID:23727036)
- Cheilitis (HP:0100825): Inflammation of the lip. Evidence: PCS. Frequency: 1/1. (PMID:24332264)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. Frequency: 2/2. (PMID:23727036)
- 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:23727036)
- Clubbing (HP:0001217): Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. Evidence: PCS. Frequency: 1/1. (PMID:24332264)
- Recurrent viral infections (HP:0004429): Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. Evidence: PCS. Frequency: 1/1. (PMID:24332264)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: PCS. Frequency: 1/1. (PMID:24332264)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 2/2. (PMID:23727036)
- 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. Frequency: 2/2. (PMID:23727036)
These phenotypes are associated with the disease combined immunodeficiency due to MALT1 deficiency (OMIM:615468).