Abnormality of skin pigmentation, Abnormality of the cardiovascular system, Abnormality of the kidney, Abnormality of the metacarpal bones, Abnormality of the nail, Abnormality of the neck, Abnormality of the thyroid gland, Abnormality of the uterus, Abnormality of the wrist, Adenoma sebaceum, Angioid streaks of the fundus, Anteverted nares, Arterial thrombosis, Arteriovenous malformation, Asymmetric growth, Asymmetry of the thorax, Ataxia, Autism, Bone cyst, Brachydactyly, Breast carcinoma, Bronchogenic cyst, Buphthalmos, Cachexia, Calvarial hyperostosis, Capillary hemangioma, Carious teeth, Cataract, Cavernous hemangioma, Cellular immunodeficiency, Central heterochromia, Chorioretinal coloboma, Clinodactyly of the 5th finger, Cognitive impairment, Colonic diverticula, Colorectal polyposis, Conjunctival hamartoma, Craniosynostosis, Decreased muscle mass, Deep venous thrombosis, Depigmentation/hyperpigmentation of skin, Depressed nasal bridge, Diabetes insipidus, Disproportionate tall stature, Dolichocephaly, Downslanted palpebral fissures, Dysgerminoma, Endometrial carcinoma, Enlarged polycystic ovaries, Epidermal acanthosis, Epidermal nevus, Exostoses, Facial asymmetry, Facial hyperostosis, Failure to thrive, Fibroadenoma of the breast, Fibroma, Finger syndactyly, Follicular thyroid carcinoma, Furrowed tongue, Generalized hirsutism, Generalized hyperkeratosis, Generalized hyperpigmentation, Glaucoma, Global developmental delay, Goiter, Gray matter heterotopia, Gynecomastia, Hallux valgus, Hamartoma, Hamartomatous polyposis, Hearing impairment, Hemangioma, Hemihypertrophy, Hereditary nonpolyposis colorectal carcinoma, High palate, Hip dislocation, Hydrocele testis, Hyperkeratosis, Hyperostosis, Hypertelorism, Hyperthyroidism, Hypertrophy of skin of soles, Hypopigmented skin patches, Hypoplasia of the maxilla, Hypothyroidism, Increased intracranial pressure, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intention tremor, Irregular hyperpigmentation, Joint stiffness, Kyphoscoliosis, Kyphosis, Limbal dermoid, Lipoma, Long face, Long penis, Low-set ears, Lower limb asymmetry, Lymphangioma, Lymphedema, Macrocephaly, Macrodactyly, Macroglossia, Macroorchidism, Macrotia, Macule, Mandibular hyperostosis, Melanocytic nevus, Melanoma, Meningioma, Metatarsus valgus, Micrognathia, Mucosal telangiectasiae, Multiple cafe-au-lait spots, Multiple lipomas, Myofibrillar myopathy, Myopia, Narrow internal auditory canal, Narrow mouth, Neoplasm, Neoplasm of the central nervous system, Neoplasm of the lung, Neoplasm of the skin, Neoplasm of the stomach, Neoplasm of the thymus, Neoplasm of the thyroid gland, Nevus, Open mouth, Ovarian cyst, Ovarian neoplasm, Ovarian papillary adenocarcinoma, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Papilloma, Papule, Pectus excavatum, Progressive macrocephaly, Proptosis, Ptosis, Pulmonary embolism, Recurrent infections, Renal cell carcinoma, Renal cyst, Retinal hamartoma, Retinal nonattachment, Round face, Scoliosis, Seizure, Short stature, Sirenomelia, Skeletal dysplasia, Skin tags, Spinal canal stenosis, Spinal cord compression, Splenomegaly, Strabismus, Subcutaneous lipoma, Subcutaneous nodule, Sudden cardiac death, Testicular neoplasm, Thick nasal alae, Thickened skin, Thin bony cortex, Thrombophlebitis, Thymus hyperplasia, Thyroid adenoma, Thyroiditis, Tooth agenesis, Transitional cell carcinoma of the bladder, Upper limb asymmetry, Uterine leiomyosarcoma, Varicocele, Vascular skin abnormality, Venous malformation, Visceral angiomatosis

abnormal tumor morphology, behavior/neurological phenotype, decreased body size, decreased circulating thyroxine level, decreased fetal size, decreased hepatocyte number, decreased keratinocyte proliferation, decreased lean body mass, decreased litter size, decreased liver triglyceride level, decreased percent body fat/body weight, decreased placenta weight, decreased placental labyrinth size, decreased prepulse inhibition, decreased respiratory quotient, decreased spongiotrophoblast size, decreased susceptibility to diet-induced obesity, decreased susceptibility to hepatic steatosis, decreased trophoblast glycogen cell number, dilated bile duct, epidermal hyperplasia, growth/size/body region phenotype, homeostasis/metabolism phenotype, improved glucose tolerance, increased adenocarcinoma incidence, increased basal metabolism, increased carbon dioxide production, increased cell proliferation, increased cellular sensitivity to gamma-irradiation, increased circulating adiponectin level, increased fatty acid oxidation, increased insulin sensitivity, increased muscle weight, increased oxygen consumption, increased skeletal muscle fiber size, increased skeletal muscle size, increased trichoepithelioma incidence, mammary gland alveolar hyperplasia, mammary gland hyperplasia, multinucleated giant male germ cells, no abnormal phenotype detected, oral erythroplakia, postnatal lethality, incomplete penetrance, premature death, seminiferous tubule degeneration, small myocardial fiber, small seminiferous tubules, thin hypodermis, underdeveloped hair follicles, weakness