Astigmatism, Behavioral abnormality, Blurred vision, Cervical lymphadenopathy, Chest pain, Cholangitis, Chronic diarrhea, Chronic hepatitis, Clubbing, Colitis, Confusion, Congestive heart failure, Constipation, Cough, Cutis marmorata, Dementia, Dilated cardiomyopathy, Dysphagia, Dyspnea, Eczema, Elevated hepatic transaminase, Encephalopathy, Endocardial fibrosis, Eosinophilia, Erythroderma, Esophageal neoplasm, Failure to thrive, Fatigue, Feeding difficulties in infancy, Fever, Functional motor deficit, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Hypercoagulability, Hyperpigmentation of the skin, Hyperreflexia, Inflammatory abnormality of the skin, Intestinal obstruction, Intestinal polyposis, Intracranial hemorrhage, Intussusception, Irregular hyperpigmentation, Joint swelling, Large hands, Leukocytosis, Malabsorption, Memory impairment, Muscle weakness, Myalgia, Myelodysplasia, Myelofibrosis, Myeloproliferative disorder, Myocardial eosinophilic infiltration, Nausea and vomiting, Neoplasm of the colon, Neoplasm of the gastrointestinal tract, Neoplasm of the rectum, Neoplasm of the small intestine, Neoplasm of the stomach, Neurofibromas, Neutrophilia, Pallor, Pancreatitis, Papule, Paresthesia, Peripheral neuropathy, Pleural effusion, Portal fibrosis, Pruritus, Pulmonary embolism, Pulmonary fibrosis, Pulmonary infiltrates, Raynaud phenomenon, Respiratory distress, Restrictive cardiomyopathy, Sarcoma, Seizure, Sensory impairment, Skeletal muscle atrophy, Skin nodule, Skin rash, Splenomegaly, Supraventricular arrhythmia, Swelling of proximal interphalangeal joints, Thrombocytopenia, Thrombocytosis, Thromboembolic stroke, Transient ischemic attack, Urticaria, Vasculitis in the skin, Venous thrombosis, Vomiting

abnormal mesenchyme morphology, abnormal myotome development, abnormal myotome morphology, abnormal nasal bone morphology, abnormal nasal capsule morphology, abnormal ovarian follicle morphology, abnormal pectoral girdle bone morphology, abnormal placenta development, abnormal placenta vasculature, abnormal pubis morphology, abnormal pulmonary alveolus morphology, abnormal rib joint morphology, abnormal skeleton development, abnormal spermatocyte morphology, abnormal spine curvature, abnormal sternum morphology, abnormal testis cord formation, abnormal thoracic vertebrae morphology, abnormal trophoblast layer morphology, abnormal ureter development, abnormal ureter smooth muscle morphology, abnormal vasculogenesis, abnormal vitelline vasculature morphology, absent roof plate, absent sternum, absent zygomatic bone, acromion hypoplasia, anovulation, cardiac fibrosis, cardiovascular system phenotype, cellular phenotype, craniofacial phenotype, decreased Leydig cell number, decreased body size, decreased circulating estradiol level, decreased cranium height, decreased embryo size, decreased oligodendrocyte progenitor number, decreased theca cell number, delayed fertility, delayed heart development, dilated ureter, ectopic cranial bone, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, esophagus hyperplasia, failure of initiation of embryo turning, failure of somite differentiation, fetal bleb, growth/size/body region phenotype, hematopoietic system phenotype, impaired ossification of basisphenoid bone, incomplete embryo turning, incomplete rostral neuropore closure, increased apoptosis, increased cell proliferation, increased embryo size, increased fetal size, increased fibroblast chemotaxis, increased fibroblast proliferation, increased mesenchymal cell proliferation involved in lung development, intestinal fibrosis, lethality throughout fetal growth and development, incomplete penetrance, neonatal lethality, incomplete penetrance, no abnormal phenotype detected, open neural tube, palatal shelves fail to meet at midline, pericardial edema, pigmentation phenotype, postnatal lethality, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, prenatal lethality, complete penetrance, pulmonary hyperplasia, renal glomerulus hypertrophy, reproductive system phenotype, retroesophageal right subclavian artery, short ureter, skeletal muscle interstitial fibrosis, skeleton phenotype, skin edema, small ovary, small thymus, thin epidermis, wavy neural tube, wide sternum