Brachycephaly, Calf muscle hypoplasia, Camptodactyly of finger, Choroidal neovascularization, Congenital contracture, Congenital kyphoscoliosis, Crumpled ear, Disproportionate tall stature, Distal arthrogryposis, Dolichocephaly, Duodenal atresia, Ectopia lentis, Elbow flexion contracture, Flexion contracture, Frontal bossing, High palate, Hip contracture, Intestinal malrotation, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Macular degeneration, Metatarsus adductus, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Motor delay, Myopia, Osteopenia, Patellar dislocation, Patellar subluxation, Patent ductus arteriosus, Pectus carinatum, Reduced visual acuity, Scaphocephaly, Scoliosis, Short neck, Slender build, Talipes equinovarus, Tracheoesophageal fistula, Ulnar deviation of finger, Ventricular septal defect

abnormal locomotor activation, abnormal mandible morphology, abnormal motor capabilities/coordination/movement, abnormal muscle electrophysiology, abnormal nail morphology, abnormal skeleton development, abnormal tail morphology, abnormal vertebral arch morphology, abnormal zygomatic bone morphology, decreased body length, decreased body size, decreased bone mass, decreased circulating amylase level, decreased grip strength, decreased skeletal muscle fiber diameter, fused phalanges, improved glucose tolerance, increased bone mineral content, increased circulating alkaline phosphatase level, increased liver weight, increased prepulse inhibition, increased skeletal muscle mass, limb grasping, prolonged ST segment, reduced fertility, respiratory system phenotype, vision/eye phenotype