Abnormality of the nail, Abnormality of the skin, Absent hand, Asymmetric growth, Atrophic, patchy alopecia, Attention deficit hyperactivity disorder, Blue sclerae, Breast aplasia, Breast hypoplasia, Broad nail, Camptodactyly of finger, Cataract, Cerebral cortical atrophy, Cerebral ischemia, Coarse hair, Cognitive impairment, Congestive heart failure, Conical incisor, Conical tooth, Corneal opacity, Decreased circulating IgA level, Decreased circulating IgG level, Delayed eruption of teeth, Deviation of finger, Dry skin, Dysgammaglobulinemia, Dystrophic toenail, Ectodermal dysplasia, Eosinophilia, Erythema, Fine hair, Finger syndactyly, Frontal bossing, Gait disturbance, Global developmental delay, Hearing abnormality, Hemiplegia/hemiparesis, Hemivertebrae, Hyperhidrosis, Hyperkeratosis, Hypodontia, Hypopigmented skin patches, Hypoplasia of the fovea, Hypoplastic fingernail, Hypoplastic nipples, Hypotonia, Immunodeficiency, Impaired memory B cell generation, Increased circulating IgM level, Infectious encephalitis, Intellectual disability, Irregular hyperpigmentation, Keratitis, Kyphoscoliosis, Leukocytosis, Lymphedema, Microcephaly, Microphthalmia, Nail dysplasia, Nail dystrophy, Nail pits, Onychogryposis, Optic atrophy, Orofacial cleft, Osteolysis, Osteopetrosis, Pallor, Pulmonary arterial hypertension, Recurrent bacterial infections, Recurrent infections, Recurrent mycobacterium avium complex infections, Recurrent streptococcus pneumoniae infections, Retinal detachment, Retinal hemorrhage, Retinal vascular proliferation, Ridged fingernail, Ridged nail, Scarring, Scoliosis, Seizure, Short stature, Skin rash, Skin ulcer, Sparse hair, Spasticity, Spina bifida occulta, Strabismus, Supernumerary nipple, Supernumerary ribs, Telangiectasia of the skin, Umbilical hernia, Uveitis, Verrucae, Visual impairment, obsolete Hypotrichosis

abnormal locomotor behavior, abnormal response/metabolism to endogenous compounds, absent megakaryocytes, crypts of Lieberkuhn abscesses, decreased B-1 B cell number, decreased CD4-positive, alpha beta T cell number, decreased NK T cell number, decreased circulating glucose level, decreased follicular B cell number, decreased immature B cell number, decreased interleukin-12b secretion, decreased interleukin-6 secretion, decreased marginal zone B cell number, decreased mature B cell number, decreased physiological sensitivity to xenobiotic, decreased regulatory T cell number, decreased sensitivity to xenobiotic induced morbidity/mortality, decreased single-positive T cell number, decreased susceptibility to endotoxin shock, decreased tumor necrosis factor secretion, embryonic lethality during organogenesis, complete penetrance, homeostasis/metabolism phenotype, immune system phenotype, increased B cell proliferation, increased T cell apoptosis, increased apoptosis, increased cell proliferation, increased circulating alanine transaminase level, increased circulating aspartate transaminase level, increased circulating glutamate dehydrogenase level, increased circulating tumor necrosis factor level, increased fibroblast apoptosis, increased hepatocellular carcinoma incidence, increased hepatocyte apoptosis, increased hepatocyte proliferation, increased interferon-gamma secretion, increased interleukin-6 secretion, increased keratinocyte apoptosis, increased liver weight, increased physiological sensitivity to xenobiotic, increased sensitivity to xenobiotic induced morbidity/mortality, increased susceptibility to endotoxin shock, liver hemorrhage, liver/biliary system phenotype, no abnormal phenotype detected, postnatal lethality, incomplete penetrance, prenatal lethality, complete penetrance, preweaning lethality, complete penetrance, reduced female fertility, retarded hair growth, small spleen, small thymus