Acute myeloid leukemia, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Avascular necrosis, Blepharitis, Bone marrow hypocellularity, Carious teeth, Cataract, Cellular immunodeficiency, Cerebral calcification, Cirrhosis, Coarse metaphyseal trabecularization, Diabetes mellitus, Displacement of the urethral meatus, Esophageal stricture, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hypermelanotic macule, Hypodontia, Hypopigmented skin patches, Hypoplasia of the maxilla, Intrauterine growth retardation, Lymphoma, Macule, Malabsorption, Nail dystrophy, Neoplasm, Neoplasm of the pancreas, Oral leukoplakia, Osteoporosis, Palmoplantar keratoderma, Periodontitis, Premature graying of hair, Recurrent fractures, Recurrent respiratory infections, Scoliosis, Short stature, Skin ulcer, Skin vesicle, Sparse hair, Splenomegaly, Taurodontia, Telangiectasia of the skin, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis, White hair, obsolete Hypotrichosis

abnormal megakaryocyte morphology, abnormal placenta development, abnormal proerythroblast morphology, abnormal spleen B cell follicle morphology, abnormal thrombopoiesis, abnormal visceral yolk sac blood island morphology, abnormal vitelline vasculature morphology, absent forebrain, absent liver, absent vitelline blood vessels, decreased embryo size, decreased fibroblast proliferation, decreased hematopoietic stem cell number, embryo phenotype, embryonic growth arrest, embryonic lethality during organogenesis, complete penetrance, embryonic lethality, complete penetrance, hematopoietic system phenotype, increased B cell derived lymphoma incidence, increased apoptosis, increased bone marrow cell number, increased embryonic tissue cell apoptosis, increased fibroblast apoptosis, increased granulocyte monocyte progenitor cell number, increased granulocyte number, increased hematopoietic stem cell number, increased liver weight, increased spleen weight, lethality throughout fetal growth and development, complete penetrance, lethality throughout fetal growth and development, incomplete penetrance, myeloid hyperplasia, neonatal lethality, complete penetrance, premature death