Agammaglobulinemia, Arthritis, Autoimmunity, B-cell lymphoma, Birth length less than 3rd percentile, Brachydactyly, Bronchiectasis, Cataract, Cellulitis, Chronic diarrhea, Chronic lymphatic leukemia, Chronic otitis media, Clinodactyly, Conjunctivitis, Corneal opacity, Cough, Decreased circulating antibody concentration, Deeply set eye, Dehydration, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Dental malocclusion, Diabetes mellitus, Diarrhea, Dimple chin, Downturned corners of mouth, Enlarged epiphyses, Epicanthus, Excessive wrinkled skin, Failure to thrive, Fatigue, Fever, Frontal bossing, Glaucoma, Glucose intolerance, Growth delay, Hepatitis, High palate, Hyperglycemia, Hypertelorism, Hypodontia, Hypoplasia of the iris, Immunodeficiency, Insulin resistance, Insulin-resistant diabetes mellitus, Intrauterine growth retardation, Lipoatrophy, Lipodystrophy, Lymphopenia, Macrotia, Malabsorption, Malar flattening, Megalocornea, Meningitis, Microdontia, Micrognathia, Midface retrusion, Myopia, Neurodevelopmental delay, Neutropenia, obsolete External ear malformation, obsolete Hypotrichosis, obsolete Joint hyperflexibility, obsolete Joint laxity, Osteomyelitis, Poor appetite, Posterior embryotoxon, Premature skin wrinkling, Prominent forehead, Prominent supraorbital ridges, Radial deviation of finger, Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections, Recurrent skin infections, Rieger anomaly, Sensorineural hearing impairment, Sepsis, Severe short stature, Short palm, Short stature, Sinusitis, Skin rash, Small for gestational age, Splenomegaly, Telecanthus, Thin skin, Triangular face, Underdeveloped nasal alae, Verrucae, Weight loss, Wide nasal bridge

arrested B cell differentiation, decreased adipocyte glucose uptake, decreased B-1a cell number, decreased B-1 B cell number, decreased B-1b cell number, decreased B-2 B cell number, decreased B cell proliferation, decreased body length, decreased body size, decreased b-wave amplitude, decreased circulating glucose level, decreased immature B cell number, decreased insulin secretion, decreased mature B cell number, decreased NK T cell number, decreased pre-B cell number, decreased pro-B cell number, decreased triglyceride level, decreased white fat cell size, dystrophic cardiac calcinosis, embryonic lethality, complete penetrance, growth/size/body region phenotype, improved glucose tolerance, increased adipocyte glucose uptake, increased B-1b cell number, increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number, increased CD8-positive, alpha-beta memory T cell number, increased circulating insulin-like growth factor I level, increased insulin sensitivity, increased muscle cell glucose uptake, increased pro-B cell number, increased skeletal muscle fiber size, no abnormal phenotype detected, pancreatic islet hyperplasia, perinatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, retina cone cell degeneration