Blue sclerae, Broad foot, Broad ribs, Broad thumb, Camptodactyly of finger, Cleft palate, Clinodactyly, Clinodactyly of the 5th finger, Coxa valga, Coxa vara, Cutaneous syndactyly, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Disproportionate short-limb short stature, Elbow dislocation, Epicanthus, Epiphyseal dysplasia, Failure to thrive, Flared metaphysis, Flat acetabular roof, Flat face, Generalized hypotonia, Genu recurvatum, Genu varum, Glaucoma, Global developmental delay, Growth delay, Hepatomegaly, Hirsutism, Hypodontia, Hypotonia, Intellectual disability, Intellectual disability, moderate, Intrauterine growth retardation, Joint dislocation, Long philtrum, Lumbar hyperlordosis, Metaphyseal widening, Microcephaly, Moon facies, Myopia, Narrow chest, obsolete Hypotrichosis, obsolete Joint hyperflexibility, obsolete Joint laxity, obsolete Low-set, posteriorly rotated ears, Patellar dislocation, Pectus carinatum, Pectus excavatum, Pes planus, Platyspondyly, Proptosis, Radial head subluxation, Radioulnar synostosis, Relative macrocephaly, Respiratory distress, Round face, Scoliosis, Severe short stature, Short clavicles, Short femoral neck, Short long bone, Short metacarpal, Short neck, Short phalanx of finger, Short stature, Single transverse palmar crease, Small hand, Soft, doughy skin, Synophrys, Thick vermilion border, Toe clinodactyly, Truncal obesity, Ventricular septal defect

decreased body size, decreased bone trabecula number, decreased chondrocyte number, decreased thigmotaxis, decreased width of hypertrophic chondrocyte zone, disproportionate dwarf, growth/size/body region phenotype, increased trabecular bone connectivity density, increased trabecular bone thickness, increased trabecular bone volume, premature bone ossification, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, short mandible, skeleton phenotype, small thoracic cage