Bowing of the long bones, Brachyturricephaly, C1-C2 vertebral abnormality, Camptodactyly, Camptodactyly of finger, Chiari malformation, Chiari type I malformation, Communicating hydrocephalus, Conductive hearing impairment, Craniosynostosis, Cryptorchidism, Dental malocclusion, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Genu recurvatum, Genu valgum, Global developmental delay, High forehead, High palate, High, narrow palate, Hydrocephalus, Hyperextensible skin, Hypertelorism, Hypoplasia of the maxilla, Hypotonia, Intellectual disability, Joint contracture of the hand, Joint hypermobility, Joint stiffness, Lateral clavicle hook, Low-set ears, Low-set, posteriorly rotated ears, Metaphyseal widening, Metatarsus adductus, Microcephaly, Micrognathia, Minimal subcutaneous fat, Missing ribs, Mitral regurgitation, Mitral valve prolapse, Myopia, Narrow chest, Narrow palate, Obstructive sleep apnea, Osteopenia, Pectus carinatum, Pectus excavatum, Pes planus, Posteriorly rotated ears, Prominent forehead, Proptosis, Protruding ear, Ptosis, Retrognathia, Scoliosis, Shallow orbits, Strabismus, Supernumerary ribs, Talipes equinovarus, Telecanthus, Thin ribs, Umbilical hernia, Ventriculomegaly, Wide anterior fontanel, obsolete Joint hyperflexibility, obsolete Joint laxity

absent frontal bone, absent interparietal bone, absent parietal bone, decreased fetal size, decreased skeletal muscle fiber diameter, decreased skeletal muscle mass, eyelids open at birth, increased fibroblast proliferation, increased incidence of tumors by chemical induction, increased lymphoma incidence, lethality throughout fetal growth and development, incomplete penetrance, mandibular hyperostosis, open neural tube, perinatal lethality, complete penetrance, short mandible, small basioccipital bone, small basisphenoid bone, vertebral transformation