Arthrogryposis multiplex congenita, Ataxia, Atelectasis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Axial hypotonia, Beta-cell dysfunction, Bilateral ptosis, Bilateral tonic-clonic seizure, Celiac disease, Cellulitis, Chiari type I malformation, Chronic mucocutaneous candidiasis, Chronic otitis media, Cleft palate, Clinodactyly, Coarse facial features, Coma, Contractures of the joints of the lower limbs, Cough, Craniosynostosis, Decreased circulating antibody level, Deeply set eye, Dehydration, Delayed eruption of teeth, Delayed puberty, Diabetes mellitus, Downturned corners of mouth, Dystrophic fingernails, Eczematoid dermatitis, Eosinophilia, Erythema, Failure to thrive, Fever, Frontal bossing, Generalized abnormality of skin, Generalized myoclonic seizure, Gingivitis, Global developmental delay, Glycosuria, Hearing impairment, High palate, Hyperglycemia, Hypertelorism, Hypothyroidism, Hypotonia, Hypovolemia, Hypsarrhythmia, Increased circulating IgE level, Intellectual disability, Intellectual disability, severe, Interstitial pneumonitis, Intrauterine growth retardation, Joint hypermobility, Ketoacidosis, Ketonuria, Limb joint contracture, Long philtrum, Lymphoma, Moderate albuminuria, Motor delay, Muscle weakness, Neonatal insulin-dependent diabetes mellitus, Neurodevelopmental delay, Osteomyelitis, Osteopenia, Pancreatic hypoplasia, Papule, Paronychia, Peripheral axonal neuropathy, Peripheral neuropathy, Persistence of primary teeth, Prominent forehead, Prominent metopic ridge, Pruritus, Ptosis, Radial deviation of finger, Recurrent Staphylococcus aureus infections, Recurrent fractures, Recurrent fungal infections, Recurrent infections, Recurrent pneumonia, Recurrent respiratory infections, Recurrent sinopulmonary infections, Reduced pancreatic beta cells, Renal tubular dysfunction, Retinopathy, Scoliosis, Seizure, Short nose, Short stature, Skin rash, Skin ulcer, Skin vesicle, Small for gestational age, Vascular dilatation, Weight loss, Wide nasal bridge, Wide nose, obsolete Eczematoid dermatitis, obsolete Joint hyperflexibility

abnormal colon morphology, abnormal cytokine level, abnormal gut-associated lymphoid tissue morphology, abnormal hair cycle anagen phase, abnormal hair follicle morphology, abnormal heart echocardiography feature, abnormal innate immunity, abnormal interleukin level, abnormal intestinal mucosa morphology, abnormal lung vasculature morphology, abnormal macrophage physiology, abnormal myocardial fiber morphology, abnormal neuron physiology, abnormal pulmonary alveolus epithelial cell morphology, abnormal respiratory mechanics, abnormal response to infection, abnormal surfactant secretion, abnormal white adipose tissue morphology, absent corpus luteum, absent epidermis stratum granulosum, absent mesoderm, acanthosis, anovulation, cardiac fibrosis, cecum inflammation, colon polyps, decreased IgG1 level, decreased IgG3 level, decreased NAD(P)H oxidase activity, decreased T cell proliferation, decreased T-helper 17 cell number, decreased body length, decreased body size, decreased cardiac muscle contractility, decreased circulating adiponectin level, decreased circulating adrenaline level, decreased circulating glucose level, decreased circulating noradrenaline level, decreased embryo size, decreased energy expenditure, decreased food intake, decreased gonadal fat pad weight, decreased growth hormone level, decreased hair follicle number, decreased hepatocyte proliferation, decreased incidence of tumors by chemical induction, decreased inner cell mass proliferation, decreased interleukin-17 secretion, decreased keratinocyte migration, decreased locomotor activity, decreased lung compliance, decreased thymocyte number, decreased trabecular bone thickness, decreased type II pneumocyte number, decreased urine protein level, dermatitis, dilated heart, dilated heart left ventricle, embryonic lethality between implantation and somite formation, complete penetrance, failure to gastrulate, fetal growth retardation, granulomatous inflammation, ileum inflammation, impaired adaptive thermogenesis, impaired wound healing, improved glucose tolerance, increased CD4-positive, alpha beta T cell number, increased T cell apoptosis, increased T-helper 1 cell number, increased T-helper 17 cell number, increased airway resistance, increased apoptosis, increased body length, increased brown adipose tissue amount, increased cardiomyocyte apoptosis, increased circulating glucose level, increased circulating interferon-gamma level, increased circulating interleukin-17 level, increased circulating tumor necrosis factor level, increased dendritic cell number, increased gastrointestinal tumor incidence, increased gonadal fat pad weight, increased granulocyte number, increased heart left ventricle size, increased incidence of tumors by chemical induction, increased inguinal fat pad weight, increased interferon-gamma secretion, increased interleukin-12 secretion, increased interleukin-17 secretion, increased interleukin-6 secretion, increased keratinocyte proliferation, increased liver weight, increased lung elastance, increased lung tissue damping, increased macrophage cell number, increased neutrophil cell number, increased oxygen consumption, increased percent body fat/body weight, increased physiological sensitivity to xenobiotic, increased regulatory T cell number, increased retroperitoneal fat pad weight, increased sensitivity to induced morbidity/mortality, increased susceptibility to bacterial infection induced morbidity/mortality, increased susceptibility to endotoxin shock, increased susceptibility to injury, increased thymocyte apoptosis, increased total body fat amount, increased tumor necrosis factor secretion, intestinal ulcer, lacrimal gland inflammation, mixed cellular infiltration to dermis, neonatal lethality, incomplete penetrance, no abnormal phenotype detected, oxidative stress, perinatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, pregnancy-related premature death, premature death, preweaning lethality, complete penetrance, pulmonary epithelial necrosis, pulmonary hyaline membrane formation, reproductive system phenotype, respiratory system phenotype, short uterine horn, skin fibrosis, slow postnatal weight gain, small seminal vesicle, thick skin, vision/eye phenotype, weakness