Abnormality of the cardiovascular system, Abnormality of the cervical spine, Abnormality of the humerus, Abnormality of the radius, Abnormality of the ulna, Abnormality of tibia morphology, Abnormally ossified vertebrae, Absent humerus, Absent or minimally ossified vertebral bodies, Absent radius, Accessory carpal bones, Anteverted nares, Aortic aneurysm, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the ulna, Atrial septal defect, Beaking of vertebral bodies, Bipartite calcaneus, Block vertebrae, Bowed humerus, Brachydactyly, Broad distal phalanx of finger, Broad face, Broad nasal tip, Broad thumb, Bronchomalacia, C2-C3 subluxation, Capitate-hamate fusion, Carpal synostosis, Cataract, Cervical kyphosis, Cervical segmentation defect, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Club-shaped distal femur, Club-shaped proximal femur, Clubbing, Conductive hearing impairment, Corneal opacity, Coronal cleft vertebrae, Coxa vara, Craniosynostosis, Cryptorchidism, Decreased response to growth hormone stimulation test, Delayed skeletal maturation, Depressed nasal bridge, Dislocated wrist, Disproportionate short-limb short stature, Disproportionate short-trunk short stature, Distal tapering femur, Elbow dislocation, Enamel hypoplasia, Encephalocele, Enlarged cisterna magna, Epiphyseal dysplasia, Epiphyseal stippling of the humerus, Failure of eruption of permanent teeth, Fibular aplasia, Finger syndactyly, Flat acetabular roof, Flat face, Frontal bossing, Fused cervical vertebrae, Global developmental delay, Hand clenching, High palate, Hip dislocation, Hitchhiker thumb, Horizontal sacrum, Hydrops fetalis, Hyperlordosis, Hypertelorism, Hypodontia, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Hypoplastic cervical vertebrae, Hypoplastic iliac body, Hypoplastic nasal septum, Intellectual disability, Intrauterine growth retardation, Joint dislocation, Knee dislocation, Large joint dislocations, Laryngeal stenosis, Laryngotracheal stenosis, Laryngotracheomalacia, Limited elbow extension, Low-set ears, Malar flattening, Malrotation of colon, Micrognathia, Micromelia, Midface retrusion, Mixed hearing impairment, Multinucleated giant chondrocytes in epiphyseal cartilage, Multiple carpal ossification centers, Multiple renal cysts, Narrow chest, Neonatal short-trunk short stature, Omphalocele, Patellar dislocation, Pectus carinatum, Pectus excavatum, Pes planus, Platybasia, Platyspondyly, Polyhydramnios, Poorly ossified vertebrae, Preauricular skin tag, Premature birth, Prominent forehead, Prominent occiput, Proptosis, Pulmonary hypoplasia, Radial bowing, Renal cyst, Respiratory insufficiency, Restrictive ventilatory defect, Retinal dysplasia, Rhizomelia, Sandal gap, Scapular winging, Scoliosis, Sensorineural hearing impairment, Severe short stature, Severe short-limb dwarfism, Shallow orbits, Short distal phalanx of finger, Short femur, Short humerus, Short long bone, Short metacarpal, Short metatarsal, Short nail, Short neck, Short nose, Short stature, Short tibia, Short tubular bones of the hand, Small foramen magnum, Spatulate thumbs, Spina bifida occulta, Spinal cord compression, Spondylolysis, Talipes equinovalgus, Talipes equinovarus, Tarsal synostosis, Telecanthus, Thoracic hypoplasia, Thoracic platyspondyly, Thoracolumbar kyphosis, Tibial bowing, Tombstone-shaped proximal phalanges, Tracheal stenosis, Tracheomalacia, Ulnar deviation of the wrist, Underdeveloped nasal alae, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Vertebral segmentation defect, Wide nasal bridge, Widened distal phalanges, obsolete Abnormality of the metacarpal bones, obsolete Joint hyperflexibility, obsolete Joint laxity

abnormal long bone epiphyseal plate proliferative zone, abnormal middle cerebral artery morphology, abnormal motor capabilities/coordination/movement, abnormal neurocranium morphology, abnormal occipital bone morphology, abnormal patella morphology, abnormal perichondrium morphology, abnormal skeleton development, abnormal sternebra morphology, abnormal sternum morphology, abnormal vertebral column morphology, abnormal viscerocranium morphology, absent intervertebral disk, decreased body size, decreased bone mineral content, decreased bone mineralization, decreased bone ossification, decreased diameter of radius, decreased diameter of ulna, decreased fibroblast cell migration, decreased lean body mass, decreased long bone epiphyseal plate size, decreased red blood cell distribution width, decreased survivor rate, decreased width of hypertrophic chondrocyte zone, delayed bone ossification, delayed endochondral bone ossification, delayed intramembranous bone ossification, embryonic lethality during organogenesis, incomplete penetrance, increased width of hypertrophic chondrocyte zone, joint laxity, neonatal lethality, incomplete penetrance, perinatal lethality, incomplete penetrance, postnatal lethality, incomplete penetrance, premature death, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, short radius, slow postnatal weight gain, small thoracic cage