Abnormality of the metaphysis, Abnormality of the skeletal system, Abnormality of thumb phalanx, 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, B lymphocytopenia, Biparietal narrowing, Bird-like facies, Blepharophimosis, 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 level, Decreased circulating IgG level, 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, High pitched voice, 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, Large beaked nose, Leukocytosis, Low anterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphoma, Malabsorption, Megalocornea, Metatarsus adductus, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Myelodysplasia, Myopia, Narrow face, Narrow forehead, Neoplasm, Nephrotic syndrome, Neuroblastoma, Nystagmus, 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, obsolete Hypotrichosis, obsolete Joint hyperflexibility

abnormal lymphopoiesis, abnormal nervous system development, abnormal proerythroblast morphology, abnormal regulatory T cell morphology, abnormal thymus morphology, arrested B cell differentiation, arrested T cell differentiation, cellular phenotype, chromosomal instability, decreased CD4-positive, alpha beta T cell number, decreased CD8-positive, naive alpha-beta T cell number, decreased IgG2b level, decreased IgG3 level, decreased T cell proliferation, decreased body size, decreased bone marrow cell number, decreased brain size, decreased brain weight, 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 interferon-gamma secretion, decreased interleukin-13 secretion, decreased spleen weight, decreased splenocyte number, decreased thymocyte number, decreased thymus weight, hematopoietic system phenotype, impaired humoral immune response, increased CD8-positive, alpha-beta T cell number, increased NK cell number, increased T cell apoptosis, increased T cell derived lymphoma incidence, increased anti-chromatin antibody level, increased anti-double stranded DNA antibody level, 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 spinal cord apoptosis, 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