Abnormality of femoral epiphysis, Abnormality of fibula morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the abdominal wall, Abnormality of the dentition, Abnormality of the metaphysis, Abnormality of the wrist, Abnormality of ulnar metaphysis, Abnormality of vertebral epiphysis morphology, Absent styloid process of ulna, Absent vertebral body mineralization, Acetabular spurs, Anisospondyly, Anonychia, Anterior rib cupping, Anteverted nares, Aplasia/Hypoplasia of the lungs, Arachnodactyly, Arthralgia, Arthropathy, Asteroid hyalosis, Avascular necrosis, Avascular necrosis of the capital femoral epiphysis, Barrel-shaped chest, Beaking of vertebral bodies, Bifid uvula, Blindness, Bowed humerus, Bowing of the long bones, Brachydactyly, Broad forehead, Broad long bones, Broad palm, Broad thumb, C1-C2 subluxation, Carpal bone hypoplasia, Cartilage destruction, Cataract, Cerebral calcification, Cervical myelopathy, Cleft palate, Club-shaped proximal femur, Coarse facial features, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Coronal cleft vertebrae, Coxa valga, Coxa vara, Cystic hygroma, Decreased cranial base ossification, Delayed calcaneal ossification, Delayed epiphyseal ossification, Delayed pubic bone ossification, Delayed skeletal maturation, Depressed nasal bridge, Disc-like vertebral bodies, Disproportionate short stature, Disproportionate short-limb short stature, Disproportionate short-trunk short stature, Disproportionate tall stature, Dumbbell-shaped long bone, Ectopia lentis, Edema, Enlarged joints, Enlarged thorax, Epiphyseal dysplasia, Exostoses, Femoral hernia, Flared femoral metaphysis, Flared metaphysis, Flat acetabular roof, Flat capital femoral epiphysis, Flat face, Flattened epiphysis, Flattened femoral head, Flattened, squared-off epiphyses of tubular bones, Flexion contracture, Frontal bossing, Gait disturbance, Generalized hypotonia, Generalized joint hypermobility, Generalized osteoporosis, Genu valgum, Genu varum, Glaucoma, Glossoptosis, Groin pain, Growth abnormality, Hearing impairment, Heberden's node, Hip contracture, Hip dislocation, Hip osteoarthritis, Hip pain, Horizontal ribs, Hydrops fetalis, Hyperlordosis, Hypertelorism, Hypoplasia of proximal radius, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Hypoplasia of the ulna, Hypoplastic ilia, Hypoplastic iliac wing, Hypoplastic ischia, Hypoplastic pelvis, Hypoplastic pubic bone, Hypoplastic scapulae, Hypotonia, Impairment of activities of daily living, Intellectual disability, Intervertebral space narrowing, Irregular femoral epiphysis, Irregular vertebral endplates, Joint dislocation, Joint stiffness, Knee osteoarthritis, Kyphoscoliosis, Kyphosis, Lethal skeletal dysplasia, Limitation of joint mobility, Limitation of knee mobility, Limited elbow extension, Limited elbow movement, Limited hip movement, Long philtrum, Low-set ears, Lower limb asymmetry, Lumbar hyperlordosis, Lumbar kyphoscoliosis, Macrocephaly, Malar flattening, Membranous vitreous appearance, Metaphyseal cupping, Metaphyseal dappling, Metaphyseal dysplasia, Metaphyseal enchondromatosis, Metaphyseal irregularity, Micrognathia, Micromelia, Midface retrusion, Mitral valve prolapse, Morbus Scheuermann, Motor delay, Multiple enchondromatosis, Myopia, Narrow chest, Narrow femoral neck, Narrow greater sciatic notch, Narrow iliac wing, Narrow mouth, Neonatal short-limb short stature, Neonatal short-trunk short stature, Nystagmus, Osteoarthritis, Ovoid vertebral bodies, Pectus carinatum, Pectus excavatum, Pes planus, Pierre-Robin sequence, Platyspondyly, Polyhydramnios, Postaxial hand polydactyly, Pretibial blistering, Prominent forehead, Proptosis, Protuberant abdomen, Ptosis, Pugilistic facies, Pulmonary hypoplasia, Recurrent otitis media, Respiratory distress, Restrictive ventilatory defect, Retinal detachment, Retinal dysplasia, Retinal thinning, Retinopathy, Rhegmatogenous retinal detachment, Rhizomelia, Round face, Schmorl's node, Scoliosis, Sensorineural hearing impairment, Severe limb shortening, Severe platyspondyly, Severe short stature, Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short distal phalanx of the 3rd finger, Short distal phalanx of the 4th finger, Short distal phalanx of the 5th finger, Short femoral neck, Short foot, Short greater sciatic notch, Short long bone, Short metacarpal, Short metatarsal, Short neck, Short nose, Short palm, Short phalanx of finger, Short ribs, Short stature, Short stepped shuffling gait, Short thorax, Short thumb, Short toe, Short tubular bones of the hand, Shortening of all middle phalanges of the fingers, Shortening of all proximal phalanges of the fingers, Skeletal dysplasia, Skeletal muscle atrophy, Skin erosion, Splayed epiphyses, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasia, Spondylolisthesis, Spondylometaphyseal dysplasia, Stiff neck, Submucous cleft hard palate, Talipes equinovarus, Thickened nuchal skin fold, Thin ribs, Thoracic hypoplasia, Thoracic kyphosis, Tibial metaphyseal irregularity, Tracheal stenosis, Tracheomalacia, Trismus, Type E brachydactyly, Umbilical hernia, Vertebral segmentation defect, Visual loss, Vitreoretinopathy, Waddling gait, obsolete Joint hyperflexibility

abnormal craniofacial bone morphology, abnormal cranium morphology, abnormal diencephalon morphology, abnormal elbow joint morphology, abnormal endochondral bone ossification, abnormal epiphyseal plate morphology, abnormal eye development, abnormal forebrain development, abnormal forelimb morphology, abnormal hindlimb morphology, abnormal limb long bone morphology, abnormal limb morphology, abnormal long bone epiphyseal ossification zone morphology, abnormal long bone epiphyseal plate morphology, abnormal long bone epiphyseal plate proliferative zone, abnormal long bone hypertrophic chondrocyte zone, abnormal long bone metaphysis morphology, abnormal lung volume, abnormal mesendoderm development, abnormal neurocranium morphology, abnormal optic vesicle formation, abnormal perichondrium morphology, abnormal phalanx morphology, abnormal postnatal growth/weight/body size, abnormal pulmonary alveolus morphology, abnormal skeleton development, abnormal skeleton physiology, abnormal snout morphology, abnormal tail morphology, abnormal vertebrae development, abnormal vertebral arch morphology, abnormal vertebral body morphology, absent intervertebral disk, absent nasal cavity, absent palatal shelf, chondrodystrophy, decreased body length, decreased body size, decreased bone trabecula number, decreased bone volume, decreased chondrocyte proliferation, decreased embryo size, decreased fetal size, decreased litter size, decreased percent body fat/body weight, decreased trabecular bone volume, decreased width of hypertrophic chondrocyte zone, delayed bone ossification, delayed endochondral bone ossification, disorganized long bone epiphyseal plate, disorganized retina layers, disproportionate dwarf, domed cranium, enlarged vertebral body, head bobbing, immune system phenotype, increased chondrocyte apoptosis, increased compact bone thickness, increased cranium length, increased diameter of femur, increased diameter of humerus, increased diameter of long bones, increased diameter of radius, increased diameter of tibia, increased diameter of ulna, increased long bone epiphyseal plate size, increased percent body fat/body weight, increased renal plasma flow rate, kidney hemorrhage, liver/biliary system phenotype, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, no abnormal phenotype detected, perinatal lethality, complete penetrance, persistence of notochord tissue, postnatal lethality, incomplete penetrance, prenatal lethality, incomplete penetrance, short facial bone, short lumbar vertebrae, short mandible, short radius, skeleton phenotype, small cranium, small thoracic cage, spinning, vision/eye phenotype