Brachydactyly, Bronchiectasis, Chronic otitis media, Chronic sinusitis, Cognitive impairment, Conductive hearing impairment, Cortical myoclonus, Cutaneous abscess, Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells, Decreased/absent ankle reflexes, Dysarthria, Eczematoid dermatitis, Eosinophilia, Erythema, Failure to thrive, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hemolytic anemia, High palate, Hyperactive patellar reflex, Hyporeflexia, Hypotonia, Immunodeficiency, Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level, Intellectual disability, Intellectual disability, moderate, Lactose intolerance, Leukopenia, Lymphoma, Lymphopenia, Membranoproliferative glomerulonephritis, Mild neurosensory hearing impairment, Moderate global developmental delay, Myoclonus, Narrow palpebral fissure, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Osteomyelitis, Recurrent bacterial infections, Recurrent fungal infections, Recurrent infections, Recurrent pneumonia, Recurrent respiratory infections, Recurrent skin infections, Recurrent viral infections, Reduced antigen-specific T cell proliferation, Reduced natural killer cell count, Rheumatoid factor positive, Scoliosis, Seizure, Sensorineural hearing impairment, Sepsis, Severe combined immunodeficiency, Short stature, Skin ulcer, Somatic sensory dysfunction, T lymphocytopenia, Vasculitis in the skin

embryonic lethality between implantation and somite formation, complete penetrance, increased pro-B cell number, increased spleen red pulp amount, increased spleen weight, pancreatic acinar hypoplasia, postnatal lethality