Accelerated skeletal maturation, Advanced ossification of carpal bones, Advanced tarsal ossification, Anemia, Anteverted nares, Aplastic clavicle, Arthralgia, Bone pain, Bowing of the long bones, Brachycephaly, Brachydactyly, Broad clavicles, Broad foot, Broad palm, Cataract, Choanal atresia, Choanal stenosis, Chondrosarcoma, Clinodactyly of the 5th finger, Clubbing of fingers, Coarctation of aorta, Cubitus valgus, Delayed epiphyseal ossification, Depressed nasal bridge, Distal shortening of limbs, Elevated circulating alkaline phosphatase concentration, Epiphyseal dysplasia, Failure of eruption of permanent teeth, Fibular hypoplasia, Flared metaphysis, Generalized osteosclerosis, Hearing impairment, Hemangioma, High iliac wing, Hip contracture, Hydrops fetalis, Hypercalcemia, Hypercalciuria, Hyperphosphaturia, Hypertelorism, Hypodontia, Hypoparathyroidism, Hypophosphatemia, Increased bone mineral density, Joint stiffness, Knee flexion contracture, Laryngeal calcification, Lethal skeletal dysplasia, Limited elbow flexion, Limited hip movement, Long philtrum, Low-set ears, Lymphangioma, Malar flattening, Mesomelia, Metaphyseal chondrodysplasia, Metaphyseal cupping, Metaphyseal irregularity, Micrognathia, Micromelia, Multiple enchondromatosis, Narrow chest, Narrow pelvis bone, Natal tooth, Neonatal short-limb short stature, Neoplasm, Nephrocalcinosis, Osteolysis, Osteopenia, Pathologic fracture, Persistence of primary teeth, Platyspondyly, Polyhydramnios, Precocious puberty, Premature birth, Prominent supraorbital arches in adult, Proptosis, Protruding tongue, Protuberant abdomen, Pulmonary hypoplasia, Rhizomelia, Sarcoma, Severe short stature, Short foot, Short long bone, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short ribs, Short stature, Short thorax, Short toe, Skeletal dysplasia, Skin ulcer, Squared iliac bones, Subcutaneous nodule, Synostosis of joints, Telecanthus, Thick skull base, Thin bony cortex, Tooth malposition, Venous thrombosis, Visceral angiomatosis, Waddling gait

abnormal long bone hypertrophic chondrocyte zone, abnormal neurocranium morphology, abnormal osteoblast physiology, abnormal placenta morphology, abnormal skeleton development, abnormal sternum morphology, abnormal synchondrosis, abnormal thymus morphology, abnormal vertebral artery topology, absent ductus venosus valve, absent segment of posterior cerebral artery, anastomosis between internal carotid artery and basilar artery, blood in lymph vessels, chondrodystrophy, decreased bone mineral content, decreased chondrocyte number, decreased circulating parathyroid hormone level, decreased embryo size, decreased fetal size, decreased lean body mass, decreased long bone epiphyseal plate size, decreased total retina thickness, dilated bile duct, domed cranium, embryonic growth retardation, enlarged lymphatic vessel, enlarged paraumbilical vein, foramen magnum stenosis, herniated liver, increased hemangioma incidence, increased long bone epiphyseal plate size, jugular vein stenosis, lethality throughout fetal growth and development, incomplete penetrance, neonatal lethality, complete penetrance, perinatal lethality, complete penetrance, placenta hemorrhage, premature chondrocyte differentiation, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, respiratory system phenotype, retropharyngeal edema, short mandible, skeleton phenotype, small lung