Cleft palate, Delayed cranial suture closure, Depressed nasal bridge, Depressed nasal ridge, Downslanted palpebral fissures, Dyspnea, Elevated circulating alkaline phosphatase concentration, Enamel hypoplasia, Gingival fibromatosis, Gingival overgrowth, Global developmental delay, High palate, Highly arched eyebrow, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypophosphatemia, Increased bone mineral density, Intrauterine growth retardation, Large fontanelles, Long hallux, Low-set ears, Malar flattening, Mandibular aplasia, Mandibular prognathia, Median cleft lip and palate, Microcephaly, Microdontia, Micrognathia, Micromelia, Midface retrusion, Mixed hearing impairment, Narrow mouth, Natal tooth, Pectus excavatum, Plagiocephaly, Posteriorly rotated ears, Proptosis, Protruding ear, Protruding tongue, Pulmonary hypoplasia, Respiratory distress, Respiratory insufficiency, Retrognathia, Short neck, Short nose, Short stature, Thoracic hypoplasia, Wide mouth

abnormal long bone diaphysis morphology, abnormal long bone epiphyseal plate morphology, abnormal long bone epiphyseal plate proliferative zone, abnormal maxilla morphology, abnormal motor capabilities/coordination/movement, abnormal osteocyte canaliculus morphology, abnormal osteocyte dendritic process morphology, abnormal osteocyte lacuna morphology, abnormal osteocyte lacunocanalicular system morphology, abnormal osteocyte morphology, abnormal periodontal ligament morphology, abnormal postnatal growth/weight/body size, abnormal prepulse inhibition, abnormal seminal vesicle morphology, abnormal tooth hard tissue morphology, abnormal tooth root morphology, abnormal vertebral column morphology, abnormal vitamin D level, absent bone trabeculae, absent enamel, apical tooth abscess, conical molar, decreased Leydig cell number, decreased body length, decreased body size, decreased bone mineral content, decreased bone mineralization, decreased bone volume, decreased chondrocyte apoptosis, decreased chondrocyte proliferation, decreased collagen level, decreased locomotor activity, decreased trabecular bone thickness, decreased trabecular bone volume, delayed bone ossification, delayed cranial suture closure, delayed endochondral bone ossification, dental pulp inflammation, dental pulp necrosis, detached junctional epithelium, impaired balance, impaired osteoblast differentiation, increased circulating alkaline phosphatase level, increased circulating parathyroid hormone level, increased width of hypertrophic chondrocyte zone, mandibular hyperostosis, osteosclerosis, periodontal ligament necrosis, periodontal pocket, periodontium inflammation, postnatal lethality, incomplete penetrance, small cranium, small molars, tooth abscess