Aplasia/Hypoplasia of the skin, Aplasia/Hypoplasia of the thymus, Ataxia, B-cell lymphoma, Bronchiectasis, Cafe-au-lait spot, Cellular immunodeficiency, Choreoathetosis, Chronic lymphatic leukemia, Cognitive impairment, Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Defective B cell differentiation, Delayed puberty, Diabetes mellitus, Dysarthria, Dystonia, Elevated alpha-fetoprotein, Elevated hepatic transaminase, Failure to thrive, Fatigue, Female hypogonadism, Fever, Gait disturbance, Glucose intolerance, Hodgkin lymphoma, Hypopigmentation of hair, Hypoplasia of the thymus, Immunodeficiency, Leukemia, Lymphadenopathy, Lymphoma, Lymphopenia, Mucosal telangiectasiae, Multiple cafe-au-lait spots, Myoclonus, Neoplasm, Neurological speech impairment, Non-Hodgkin lymphoma, Nystagmus, Polycystic ovaries, Premature graying of hair, Prematurely aged appearance, Recurrent bronchitis, Recurrent respiratory infections, Reduced tendon reflexes, Seizure, Short stature, Sinusitis, Skeletal muscle atrophy, Spasticity, Splenomegaly, Strabismus, T lymphocytopenia, Telangiectasia of the skin, Tremor, Type II diabetes mellitus, Weight loss

abnormal chromosome morphology, abnormal class switch recombination, abnormal fat cell differentiation, abnormal female meiosis, abnormal female reproductive system morphology, abnormal gametogenesis, abnormal immune system organ morphology, abnormal lysosome morphology, abnormal microglial cell physiology, abnormal motor learning, abnormal oogenesis, abnormal seminiferous tubule morphology, abnormal spermatid morphology, abnormal spermatocyte morphology, abnormal testis development, abnormal tumor incidence, abnormal tumor susceptibility, abnormal uterus morphology, absent estrous cycle, absent estrus, absent oocytes, absent ovarian follicles, arrest of male meiosis, arrest of spermatogenesis, behavior/neurological phenotype, cellular phenotype, chromosomal instability, decreased CD4-positive, alpha beta T cell number, decreased CD8-positive, naive alpha-beta T cell number, decreased IgG2a level, decreased IgG2b level, decreased IgG3 level, decreased activated T cell number, decreased body size, decreased cell proliferation, decreased cellular sensitivity to gamma-irradiation, decreased cellular sensitivity to ionizing radiation, decreased circulating adiponectin level, decreased double-positive T cell number, decreased fibroblast proliferation, decreased immature B cell number, decreased interleukin-1 beta secretion, decreased locomotor activity, decreased pre-B cell number, decreased response to antigen, decreased sensitivity to induced cell death, decreased single-positive T cell number, decreased splenocyte number, decreased thymocyte number, decreased vertical activity, ectopic Purkinje cell, embryonic lethality, complete penetrance, hematopoietic system phenotype, immune system phenotype, impaired humoral immune response, impaired macrophage phagocytosis, increased B-1 B cell number, increased B-1a cell number, increased CD8-positive, alpha-beta memory T cell number, increased T cell derived lymphoma incidence, increased adenoma incidence, increased cellular sensitivity to gamma-irradiation, increased cellular sensitivity to ionizing radiation, increased central memory CD4-positive, alpha-beta T cell number, increased central memory CD8 positive, alpha-beta T cell number, increased double-negative T cell number, increased double-positive T cell number, increased effector memory CD4-positive, alpha-beta T cell number, increased food intake, increased hepatocellular carcinoma incidence, increased lymphoma incidence, increased macrophage cell number, increased mortality induced by gamma-irradiation, increased single-positive T cell number, increased tumor incidence, lethality, incomplete penetrance, nervous system phenotype, neuron degeneration, ovary degeneration, oxidative stress, premature death, seminiferous tubule degeneration, short stride length, small lymph nodes, small ovary, small spleen, small thymus, spontaneous chromosome breakage, thin cerebellar molecular layer, thymus cortex hypoplasia