Abnormality of the skeletal system, Abnormality of the ureter, Abnormal morphology of female internal genitalia, Abnormal nail morphology, Abnormal oral frenulum morphology, Abnormal oral mucosa morphology, Abnormal pelvic girdle bone morphology, Abnormal toenail morphology, Acetabular spurs, Acute leukemia, Advanced eruption of teeth, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Atrioventricular canal defect, Brachydactyly, Capitate-hamate fusion, Cleft upper lip, Clinodactyly of the 5th finger, Common atrium, Cone-shaped epiphyses of phalanges 2 to 5, Conical incisor, Conical tooth, Cryptorchidism, Cubitus valgus, Dandy-Walker malformation, Delayed eruption of teeth, Delayed skeletal maturation, Dextrocardia, Disproportionate short-limb short stature, Ectodermal dysplasia, Emphysema, Epispadias, Failure to thrive, Foot polydactyly, Genu valgum, Hand polydactyly, Horizontal ribs, Hydroureter, Hypodontia, Hypoplastic iliac wing, Hypoplastic toenails, Hypospadias, Hypotelorism, Intellectual disability, Intrauterine growth retardation, Microdontia, Micromelia, Mild short stature, Nail dysplasia, Nail dystrophy, Narrow chest, Natal tooth, Neonatal short-limb short stature, Overlapping fingers, Pectus carinatum, Postaxial foot polydactyly, Postaxial hand polydactyly, Prominent antihelix, Renal hypoplasia/aplasia, Short distal phalanx of finger, Short long bone, Short palm, Short ribs, Short thorax, Situs inversus totalis, Small hand, Small nail, Solitary median maxillary central incisor, Strabismus, Synostosis of carpal bones, Talipes equinovarus, Tessier cleft, Thin vermilion border, Toenail dysplasia, Ventricular septal defect

postnatal lethality, complete penetrance, premature chondrocyte differentiation, short radius, small thoracic cage