Abnormality of metabolism/homeostasis, Abnormality of the cardiovascular system, Abnormality of the hepatic vasculature, Abnormality of the kidney, Abnormality of the liver, Abnormality of the lymphatic system, Abnormality of the respiratory system, Abnormality of the thyroid gland, Abnormality of the uterus, Adenoma sebaceum, Alveolar cell carcinoma, Anasarca, Anemia, Angioid streaks of the fundus, Anorexia, Aplasia/Hypoplasia of the cerebellum, Arrhythmia, Arteriovenous malformation, Ascites, Asymmetric growth, Ataxia, Autism, Bone cyst, Bone pain, Brachydactyly, Breast carcinoma, Broad forehead, Budd-Chiari syndrome, Capillary hemangioma, Capillary malformation, Capillary malformation of the lip, Cataract, Cavernous hemangioma, Cavum septum pellucidum, Cellular immunodeficiency, Cerebral ischemia, Chiari malformation, Cognitive impairment, Colonic diverticula, Colorectal polyposis, Conjunctival hamartoma, Constitutional symptom, Cranial hyperostosis, Cutis marmorata, Deeply set eye, Depressed nasal bridge, Diarrhea, Downslanted palpebral fissures, Dysgerminoma, Dyspnea, Elevated circulating hepatic transaminase concentration, Endometrial carcinoma, Enlarged kidney, Enlarged polycystic ovaries, Epicanthus, Epigastric pain, Esophageal varix, Facial asymmetry, Failure to thrive, Fatigue, Fever, Fibroadenoma of the breast, Fibroma, Finger syndactyly, Follicular thyroid carcinoma, Foot polydactyly, Frontal bossing, Full cheeks, Furrowed tongue, Ganglioneuroma, Generalized hyperkeratosis, Generalized hypotonia, Global developmental delay, Goiter, Gynecomastia, Hamartomatous polyposis, Hand polydactyly, Hearing impairment, Hemihypertrophy, Hemihypertrophy of lower limb, Hemihypertrophy of upper limb, Hemobilia, Hepatic encephalopathy, Hepatic necrosis, Hepatocellular carcinoma, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, Hernia, High forehead, High palate, Hydrocele testis, Hydrocephalus, Hyperbilirubinemia, Hypercalcemia, Hypermelanotic macule, Hyperparakeratosis, Hypertelorism, Hyperthyroidism, Hypoalbuminemia, Hypoglycemia, Hypokalemia, Hyponatremia, Hypopigmented skin patches, Hypoplasia of the maxilla, Hypotension, Hypothyroidism, Hypotonia, Increased intracranial pressure, Increased level of L-fucose in urine, Intellectual disability, Intellectual disability, mild, Intention tremor, Internal hemorrhage, Jaundice, Kyphosis, Large earlobe, Leukemia, Lipoatrophy, Lipoma, Liver abscess, Lower limb asymmetry, Lymphangioma, Lymphedema, Macrocephaly, Macrodactyly, Macroglossia, Macule, Megalencephaly, Melanocytic nevus, Melanoma, Meningioma, Metabolic alkalosis, Micrognathia, Micronodular cirrhosis, Microphthalmia, Microtia, Mucosal telangiectasiae, Multiple cafe-au-lait spots, Multiple lipomas, Myopia, Narrow chest, Narrow mouth, Neoplasm, Neoplasm of the central nervous system, Neoplasm of the skin, Neoplasm of the stomach, Neoplasm of the thyroid gland, Nephroblastoma, Nevus, Nevus flammeus, Numerous nevi, Optic atrophy, Ovarian cyst, Ovarian papillary adenocarcinoma, Ovarian serous cystadenoma, Overgrowth, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Papilloma, Papule, Pectus excavatum, Pedal edema, Polycythemia, Polydactyly, Polymicrogyria, Poor appetite, Portal hypertension, Progressive macrocephaly, Renal cell carcinoma, Renal hypoplasia/aplasia, Sandal gap, Scoliosis, Seborrheic dermatitis, Seizure, Short stature, Skin tags, Smooth philtrum, Spinal dysraphism, Splenomegaly, Stomach cancer, Subacute progressive viral hepatitis, Subcutaneous lipoma, Subcutaneous nodule, Syndactyly, Tall stature, Telangiectasia of the skin, Tethered cord, Thrombocytopenia, Thrombocytosis, Thyroid adenoma, Thyroiditis, Toe syndactyly, Transitional cell carcinoma of the bladder, Type II diabetes mellitus, Uterine leiomyosarcoma, Varicocele, Varicose veins, Venous insufficiency, Venous malformation, Ventricular septal defect, Ventriculomegaly, Verrucae, Visceral angiomatosis, Weight loss, Wide mouth, obsolete Joint hyperflexibility, obsolete Joint laxity, obsolete Mood changes

abnormal mammary gland duct morphology, abnormal mammary gland epithelium morphology, abnormal mammary gland myoepithelium morphology, abnormal mammary gland stroma morphology, abnormal myocardial fiber physiology, abnormal ovarian follicle number, abnormal perineural vascular plexus morphology, abnormal retina vasculature morphology, abnormal somite development, abnormal vascular development, abnormal vitelline vascular remodeling, abnormal vitelline vasculature morphology, blood vessel congestion, decreased b-wave amplitude, decreased body length, decreased cardiac muscle contractility, decreased cell proliferation, decreased embryo size, decreased fibroblast apoptosis, decreased heart weight, decreased incidence of tumors by chemical induction, decreased lean body mass, decreased skeletal muscle mass, dilated vasculature, embryonic growth arrest, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality, complete penetrance, enlarged lymphatic vessel, enlarged pancreas, fetal growth retardation, increased cell proliferation, increased classified tumor incidence, increased fibroadenoma incidence, increased fibroblast proliferation, increased heart left ventricle size, increased mammary adenoacanthoma incidence, increased mammary adenocarcinoma incidence, increased mammary gland epithelial cell proliferation, increased mammary gland tumor incidence, increased pancreas weight, increased pancreatic beta cell number, increased pancreatic ductal adenocarcinoma incidence, increased pancreatic intraepithelial neoplasia incidence, increased prostate intraepithelial neoplasia incidence, increased tumor incidence, liver hemorrhage, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, no abnormal phenotype detected, pale yolk sac, pancreatic acinar-to-ductal metaplasia, postnatal lethality, incomplete penetrance, premature death, reduced female fertility, retina cone cell degeneration, thick ventricular wall