Anemia, Anorexia, Aplasia/Hypoplasia of the radius, Asthma, Ataxia, Biliary cirrhosis, Bone marrow hypocellularity, Bone pain, Bronchiectasis, Cachexia, Carious teeth, Cerebral atrophy, Chronic lung disease, Colitis, Cor pulmonale, Cortical thickening of long bone diaphyses, Coxa valga, Cranial nerve compression, Craniofacial osteosclerosis, Decreased circulating immunoglobulin concentration, Decreased total leukocyte count, Dehydration, Delayed eruption of teeth, Delayed myelination, Delayed puberty, Diaphyseal sclerosis, Diarrhea, Diplopia, Easy fatigability, EEG abnormality, Elevated circulating aldolase concentration, Elevated erythrocyte sedimentation rate, Elevated sweat chloride, Encephalopathy, Exocrine pancreatic insufficiency, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Frontal bossing, Generalized hypotonia, Genu valgum, Glaucoma, Global developmental delay, Headache, Hearing impairment, Hematuria, Hepatomegaly, Hypercalciuria, Hyperlordosis, Hyperostosis, Hypertrophic cardiomyopathy, Hypogonadism, Hypoplasia of the corpus callosum, Hypsarrhythmia, Immunodeficiency, Increased bone mineral density, Inflammation of the large intestine, Inflammatory abnormality of the skin, Kyphosis, Limb pain, Limitation of joint mobility, Lower limb pain, Malabsorption, Male infertility, Mandibular prognathia, Meconium ileus, Metaphyseal dysplasia, Muscle weakness, Narrowing of medullary canal, obsolete Abnormality of the humerus, obsolete Abnormality of the ulna, Optic atrophy, Optic nerve compression, Pes planus, Poor appetite, Proptosis, Pulmonary fibrosis, Rectal prolapse, Recurrent bronchopulmonary infections, Recurrent infections, Recurrent pneumonia, Recurrent respiratory infections, Reduced subcutaneous adipose tissue, Sclerosis of skull base, Scoliosis, Seizure, Sensory neuropathy, Skeletal dysplasia, Skeletal muscle atrophy, Slender build, Splenomegaly, Urinary retention, Waddling gait

abnormal hepatocyte morphology, abnormal immune system organ morphology, abnormal incisor color, abnormal interferon level, abnormal interleukin level, abnormal intestinal epithelium morphology, abnormal Peyer's patch germinal center morphology, abnormal physiological response to xenobiotic, abnormal regulatory T cell physiology, abnormal T cell activation, abnormal T cell differentiation, abnormal T cell subpopulation ratio, abnormal T-helper 17 cell differentiation, abnormal tooth attrition, abnormal tooth mineralization, abnormal vascular endothelial cell differentiation, abnormal visceral yolk sac morphology, abnormal vitelline vasculature morphology, absent Langerhans cell, absent vitelline blood vessels, ameloblast degeneration, atrial endocarditis, cecum inflammation, colonic necrosis, craniofacial phenotype, crypts of Lieberkuhn abscesses, decreased body size, decreased CD4-positive, alpha beta T cell number, decreased circulating angiotensinogen level, decreased Langerhans cell number, decreased osteoblast cell number, decreased Peyer's patch number, decreased spleen weight, decreased susceptibility to experimental autoimmune encephalomyelitis, decreased T-helper 17 cell number, decreased thymus weight, decreased urine osmolality, decreased urine sodium level, decreased white fat cell size, delayed hepatic development, diaphragmitis, disheveled coat, embryonic growth retardation, embryonic lethality during organogenesis, incomplete penetrance, embryo tissue necrosis, enlarged lymph nodes, excessive folding of visceral yolk sac, eye inflammation, failure of chorioallantoic fusion, gastric necrosis, growth/size/body region phenotype, heart inflammation, homeostasis/metabolism phenotype, hunched posture, immune system phenotype, improved glucose tolerance, increased anti-double stranded DNA antibody level, increased anti-nuclear antigen antibody level, increased basal metabolism, increased body temperature, increased CD4-positive, alpha beta T cell number, increased circulating alanine transaminase level, increased circulating angiotensinogen level, increased circulating creatinine level, increased fluid intake, increased food intake, increased gastric adenocarcinoma incidence, increased interferon-gamma secretion, increased interleukin-2 secretion, increased rectum adenocarcinoma incidence, increased regulatory T cell number, increased stomach tumor incidence, increased susceptibility to kidney reperfusion injury, increased systemic arterial systolic blood pressure, increased T cell proliferation, increased T-helper 1 cell number, increased tumor incidence, lacrimal gland inflammation, lethality at weaning, complete penetrance, lethality throughout fetal growth and development, incomplete penetrance, liver/biliary system phenotype, multifocal hepatic necrosis, nervous system phenotype, open neural tube, pale yolk sac, phlebitis, postnatal lethality, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, incomplete penetrance, proctitis, renal glomerular immunoglobulin deposits, salivary gland inflammation, small intestinal inflammation, small spleen