Abnormality of thumb phalanx, Abnormally high-pitched voice, Abnormal lymphocyte morphology, Abnormal metaphysis morphology, Acute leukemia, Acute lymphoblastic leukemia, Agenesis of permanent teeth, Amenorrhea, Anal stenosis, Anemia, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thumb, Aplastic anemia, Asthma, Attention deficit hyperactivity disorder, Autoimmunity, Biparietal narrowing, Bird-like facies, Blepharophimosis, B lymphocytopenia, Brachycephaly, Brachydactyly, Broad nasal tip, Broad thumb, Carious teeth, Cataract, Chronic diarrhea, Clinodactyly of the 5th finger, Craniosynostosis, Cryptorchidism, Cutaneous photosensitivity, Cutis marmorata, Decreased circulating IgA concentration, Decreased circulating IgG concentration, Delayed cranial suture closure, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Desquamation of skin soon after birth, Diarrhea, Dry skin, Eczematoid dermatitis, Edema, Eosinophilia, Epicanthus, Episodic vomiting, Erythema, Erythroderma, Facial asymmetry, Failure to thrive, Feeding difficulties in infancy, Fever, Fine hair, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Growth delay, Hearing impairment, Hepatomegaly, High forehead, High palate, Hydrocephalus, Hydronephrosis, Hyperactivity, Hypermetropia, Hypertelorism, Hypoparathyroidism, Hypoplasia of penis, Hypoplasia of the iris, Hypoplasia of the thymus, Hypoplastic toenails, Hypoproteinemia, Hypospadias, Hypotelorism, Hypothyroidism, Hypotonia, Immunodeficiency, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Leukocytosis, Low anterior hairline, Low-set ears, Lymphadenopathy, Lymphoma, Malabsorption, Megalocornea, Metatarsus adductus, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Myelodysplasia, Myopia, Narrow face, Narrow forehead, Neoplasm, Nephrotic syndrome, Neuroblastoma, Nystagmus, obsolete Hypotrichosis, obsolete Joint hyperflexibility, obsolete Large beaked nose, obsolete Low-set, posteriorly rotated ears, Otitis media, Pancytopenia, Pectus excavatum, Pes planus, Pneumonia, Prominent nose, Protruding ear, Pruritus, Psoriasiform dermatitis, Ptosis, Rectal prolapse, Recurrent bacterial infections, Recurrent fungal infections, Recurrent infections, Recurrent viral infections, Respiratory insufficiency, Rod-cone dystrophy, Sacral dimple, Sandal gap, Scoliosis, Seizure, Sepsis, Severe B lymphocytopenia, Severe combined immunodeficiency, Short attention span, Short foot, Short palpebral fissure, Short stature, Short toe, Sloping forehead, Small face, Small hand, Sparse lateral eyebrow, Sparse scalp hair, Spina bifida occulta, Splenomegaly, Strabismus, Submucous cleft hard palate, Syndactyly, Telangiectasia, Telangiectasia of the skin, Telecanthus, Thickened skin, Thin vermilion border, Thrombocytopenia, Thyroiditis, Toe syndactyly, Type II diabetes mellitus, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Velopharyngeal insufficiency, Wide anterior fontanel, Wide mouth, Wide nasal bridge

abnormal T cell activation, abnormal T cell differentiation, abnormal T cell receptor beta chain V(D)J recombination, abnormal T cell receptor V(D)J recombination, abnormal thymus morphology, arrested B cell differentiation, arrested T cell differentiation, cellular phenotype, chromosomal instability, decreased body size, decreased bone marrow cell number, decreased brain size, decreased brain weight, decreased CD4-positive, alpha beta T cell number, decreased CD8-positive, naive alpha-beta T cell number, decreased cell proliferation, decreased double-negative T cell number, decreased double-positive T cell number, decreased fetal size, decreased fibroblast proliferation, decreased hematopoietic stem cell number, decreased IgG2b level, decreased IgG3 level, decreased interferon-gamma secretion, decreased interleukin-13 secretion, decreased spleen weight, decreased splenocyte number, decreased T cell proliferation, decreased thymocyte number, decreased thymus weight, hematopoietic system phenotype, impaired humoral immune response, increased anti-chromatin antibody level, increased anti-double stranded DNA antibody level, increased CD8-positive, alpha-beta T cell number, increased cellular sensitivity to gamma-irradiation, increased cellular sensitivity to ionizing radiation, increased central memory CD8 positive, alpha-beta T cell number, increased effector memory CD4-positive, alpha-beta T cell number, increased forebrain apoptosis, increased neuron apoptosis, increased NK cell number, increased spinal cord apoptosis, increased T cell apoptosis, increased T cell derived lymphoma incidence, induced chromosome breakage, lethality throughout fetal growth and development, complete penetrance, lethality throughout fetal growth and development, incomplete penetrance, nervous system phenotype, premature death, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, reduced fertility, small spleen, small thymus, spontaneous chromosome breakage, thin cerebral cortex