Abnormal platelet function, Abnormal platelet morphology, Abnormal reticulocyte morphology, Abnormal urinary color, Abnormality of immune system physiology, Abnormality of multiple cell lineages in the bone marrow, Abnormality of skin pigmentation, Abnormality of the dentition, Abnormality of the fontanelles or cranial sutures, Abnormality of the genital system, Abnormality of the hand, Abnormality of the lymphatic system, Abnormality of the mouth, Abnormality of the urinary system, Absent eyebrow, Acanthocytosis, Acute leukemia, Acute megakaryocytic leukemia, Aganglionic megacolon, Alzheimer disease, Anal atresia, Anemia, Anemia of inadequate production, Anisocytosis, Arrhythmia, Atlantoaxial instability, Atypical scarring of skin, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Broad palm, Bruising susceptibility, Brushfield spots, Cataract, Cholelithiasis, Cleft palate, Clinodactyly of the 5th finger, Complete atrioventricular canal defect, Conductive hearing impairment, Congenital thrombocytopenia, Conjunctivitis, Corneal scarring, Cryptorchidism, Cutaneous photosensitivity, Decreased fertility, Delayed puberty, Depressed nasal bridge, Depressed nasal ridge, Developmental regression, Downturned corners of mouth, Duodenal stenosis, Ectropion, Elliptocytosis, Epicanthus, Epistaxis, Erythrodontia, Fatigue, Flat face, Gait disturbance, Growth delay, Hemolytic anemia, Hirsutism, Hyperpigmentation of the skin, Hypertrichosis, Hypochromic anemia, Hypopigmentation of the skin, Hypoplastic iliac wing, Hypothyroidism, Hypotonia, Immunodeficiency, Impaired pain sensation, Impaired platelet aggregation, Increased hemoglobin, Intellectual disability, Joint contracture of the hand, Keratoconjunctivitis, Leukocytosis, Loss of eyelashes, Macrocytic anemia, Macroglossia, Macrothrombocytopenia, Malar flattening, Microdontia, Microtia, Migraine, Myeloproliferative disorder, Myopia, Narrow mouth, Narrow palate, Neoplasm, Neutropenia, Nonimmune hydrops fetalis, Obesity, Open mouth, Osteolysis, Osteopenia, Pallor, Pathologic fracture, Persistent bleeding after trauma, Petechiae, Pink urine, Poikilocytosis, Prematurely aged appearance, Prolonged bleeding time, Protruding tongue, Recurrent corneal erosions, Recurrent fractures, Recurrent skin infections, Renal hypoplasia/aplasia, Reticulocytosis, Round ear, Sandal gap, Scleroderma, Shallow acetabular fossae, Short middle phalanx of the 5th finger, Short neck, Short nose, Short palm, Short stature, Single transverse palmar crease, Splenomegaly, Strabismus, Thick lower lip vermilion, Thickened nuchal skin fold, Thickened skin, Thrombocytopenia, Transient myeloproliferative syndrome, Type II diabetes mellitus, Umbilical hernia, Upslanted palpebral fissure, Vertebral compression fracture, obsolete Hypotrichosis, obsolete Joint laxity

abnormal hemostasis, abnormal iron level, abnormal megakaryocyte differentiation, abnormal megakaryocyte morphology, abnormal megakaryocyte progenitor cell morphology, abnormal mononuclear cell morphology, abnormal myelopoiesis, abnormal physiological response to xenobiotic, abnormal proerythroblast morphology, abnormal spleen red pulp morphology, abnormal thrombopoiesis, absent vitelline blood vessels, autoimmune response, decreased bone marrow cell number, decreased circulating interleukin-13 level, decreased circulating interleukin-4 level, decreased embryo size, decreased eosinophil cell number, decreased erythrocyte cell number, decreased fetal size, decreased hematocrit, decreased spleen red pulp amount, decreased spleen white pulp amount, decreased survivor rate, embryo tissue necrosis, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, enlarged pericardium, hematopoietic system phenotype, impaired hematopoiesis, increased bone ossification, increased bone trabecula number, increased compact bone volume, increased neutrophil cell number, increased number of Howell-Jolly bodies, increased osteoblast cell number, increased osteoclast cell number, increased spleen weight, increased splenocyte number, increased trabecular bone volume, lethality throughout fetal growth and development, complete penetrance, lethality throughout fetal growth and development, incomplete penetrance, liver hypoplasia, neonatal lethality, complete penetrance, no abnormal phenotype detected, pale liver, pale spleen, pale yolk sac, polychromatophilia, polyploidy, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, incomplete penetrance, respiratory system phenotype, small liver