Ascites, Blepharophimosis, Brachydactyly, Calvarial skull defect, Cataract, Cirrhosis, Congenital hepatic fibrosis, Cutis marmorata, EEG abnormality, Encephalocele, Esophageal varix, Failure to thrive, Finger aplasia, Finger syndactyly, Gastrointestinal hemorrhage, Global developmental delay, Hemiparesis, Hydrocephalus, Hypoplastic fingernail, Intellectual disability, Leukopenia, Microcephaly, Microphthalmia, Periventricular leukomalacia, Porencephalic cyst, Portal hypertension, Premature birth, Psychomotor retardation, Pulmonary arterial hypertension, Pulmonary artery atresia, Seizure, Short distal phalanx of finger, Short metatarsal, Short palpebral fissure, Sparse hair, Spasticity, Split hand, Strabismus, Talipes equinovarus, Tetralogy of Fallot, Thrombocytopenia, obsolete Abnormality of the metacarpal bones, obsolete Hypotrichosis

abnormal diaphragm morphology, abnormal digestion, abnormal dorsal aorta morphology, abnormal epaxial muscle morphology, abnormal fetal cardiomyocyte proliferation, abnormal glutaminergic neuron morphology, abnormal hair follicle melanocyte morphology, abnormal hair follicle melanogenesis, abnormal heart development, abnormal heart echocardiography feature, abnormal humoral immune response, abnormal intercostal muscle morphology, abnormal intestinal epithelium morphology, abnormal intestinal goblet cell morphology, abnormal locomotor behavior, abnormal lymphopoiesis, abnormal mammary gland growth during pregnancy, abnormal melanoblast morphology, abnormal myocardium layer morphology, abnormal myogenesis, abnormal neuron differentiation, abnormal pancreas development, abnormal pancreatic alpha cell differentiation, abnormal placental labyrinth vasculature morphology, abnormal proximal convoluted tubule morphology, abnormal regulatory T cell physiology, abnormal response to infection, abnormal spinal cord interneuron morphology, abnormal suckling behavior, abnormal vascular regression, abnormal vitelline vascular remodeling, absent club cells, absent coat pigmentation, absent podocytes, absent vitelline blood vessels, aortic valve inflammation, arrested T cell differentiation, cardiac fibrosis, decreased bone mineral content, decreased cardiac muscle contractility, decreased dendritic cell number, decreased double-positive T cell number, decreased follicular dendritic cell number, decreased interleukin-4 secretion, decreased locomotor activity, decreased marginal zone B cell number, decreased melanocyte number, decreased neuronal precursor cell number, decreased pancreatic acinar cell number, decreased pancreatic islet number, decreased satellite cell number, decreased single-positive T cell number, decreased skeletal muscle fiber density, decreased spongiotrophoblast size, decreased thymocyte number, decreased tumor growth/size, diluted coat color, disorganized myocardium, disorganized pancreatic islets, embryonic growth retardation, embryonic lethality between somite formation and embryo turning, complete penetrance, embryonic lethality during organogenesis, complete penetrance, embryonic lethality prior to tooth bud stage, embryonic lethality, incomplete penetrance, epidermal cyst, heart inflammation, hypaxial muscle hypoplasia, immune system phenotype, increased IgG3 level, increased T cell proliferation, increased double-negative T cell number, increased follicular B cell number, increased grip strength, increased macrophage cell number, increased pancreatic alpha cell number, increased plasmacytoid dendritic cell number, increased single-positive T cell number, increased splenocyte number, increased susceptibility to bacterial infection induced morbidity/mortality, increased thigmotaxis, loss of GABAergic neurons, loss of vibrissae, neonatal lethality, complete penetrance, no abnormal phenotype detected, no spontaneous movement, pigmentation phenotype, postnatal lethality, complete penetrance, premature hair loss, prenatal lethality, complete penetrance, preweaning lethality, complete penetrance, skeleton phenotype, small pancreas, small thymus, thick aortic valve cusps, trabecula carnea hypoplasia