Abnormality of the metaphysis, Abnormality of the musculature, Abnormality of the orbital region, Abnormality of the skin, Anxiety, Basal ganglia calcification, Benign neoplasm of the central nervous system, Bone cyst, Brachydactyly, Cerebral calcification, Chondrocalcinosis, Corneal opacity, Delayed cranial suture closure, Delayed eruption of teeth, Delayed skeletal maturation, Dementia, Depression, Downslanted palpebral fissures, Elevated circulating thyroid-stimulating hormone concentration, Eosinophilia, Fibroma, Fragile skin, Gingival fibromatosis, Growth abnormality, Hemiplegia/hemiparesis, Hepatomegaly, Hypercalcemia, Hyperextensible skin, Hyperkeratosis, Hypermetropia, Hypoplasia of the maxilla, Intestinal obstruction, Intrauterine growth retardation, Irregular hyperpigmentation, Limitation of joint mobility, Lipoatrophy, Long foot, Malignant eosinophil proliferation, Microcephaly, Micrognathia, Midface retrusion, Migraine, Myeloproliferative disorder, Myofibromatosis, Narrow nose, Neoplasm of the lung, Neoplasm of the pancreas, Neoplasm of the skin, Nystagmus, Osteolysis, Osteolytic defects of the phalanges of the hand, Osteopenia, Overgrowth, Parkinsonism, Pointed chin, Progressive neurologic deterioration, Prominent forehead, Prominent nasal bridge, Prominent supraorbital ridges, Proptosis, Ptosis, Sarcoma, Scoliosis, Seizure, Sensorineural hearing impairment, Skin ulcer, Slender long bone, Sparse hair, Subcutaneous hemorrhage, Subcutaneous nodule, Tall stature, Thin calvarium, Thin skin, Thin upper lip vermilion, Thin vermilion border, Thoracolumbar scoliosis, Thrombocytopenia, Tracheoesophageal fistula, Ventriculomegaly, Wide nasal bridge, Wormian bones

abnormal fibroblast migration, abnormal glomerular capillary thrombosis, abnormal hypodermis fat layer morphology, abnormal inguinal fat pad morphology, abnormal kidney blood vessel morphology, abnormal left subclavian artery morphology, abnormal mesangial cell morphology, abnormal mesenteric fat pad morphology, abnormal pericyte morphology, abnormal placenta vasculature, abnormal placental labyrinth vasculature morphology, abnormal renal glomerulus morphology, abnormal response to injury, abnormal retina blood vessel morphology, abnormal retina blood vessel pattern, abnormal retina layer morphology, abnormal retina vasculature morphology, abnormal seminal vesicle morphology, abnormal thoracic aorta morphology, abnormal trophoblast layer morphology, abnormal vascular endothelial cell morphology, abnormal vascular smooth muscle physiology, abnormal venule morphology, abnormal white adipose tissue morphology, abnormal white fat cell differentation, absent mesangial cell, absent podocytes, adipose tissue phenotype, atrioventricular septal defect, cardiac fibrosis, cardiovascular system phenotype, decreased angiogenesis, decreased body size, decreased cell proliferation, decreased circulating fructosamine level, decreased fibroblast apoptosis, decreased fibroblast proliferation, decreased glomerular capillary number, decreased kidney cell proliferation, decreased retina ganglion cell number, dilated heart atrium, eye opacity, glomerulus hemorrhage, growth/size/body region phenotype, homeostasis/metabolism phenotype, impaired wound healing, increased aorta wall thickness, increased apoptosis, increased heart ventricle size, increased nucleated erythrocyte cell number, increased retina apoptosis, increased susceptibility to injury, increased susceptibility to neuronal excitotoxicity, increased vascular endothelial cell number, increased vascular permeability, increased white fat cell number, kidney hemorrhage, kidney microaneurysm, lethality throughout fetal growth and development, incomplete penetrance, myocardial fiber disarray, no abnormal phenotype detected, perinatal lethality, incomplete penetrance, polychromatophilia, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, renal/urinary system phenotype, reproductive system phenotype, retina ganglion cell degeneration, skin hemorrhage, vascular smooth muscle hyperplasia, vision/eye phenotype