Abnormality of the face, Abnormality of the nail, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the vertebral column, Absent frontal sinuses, Anemia, Blue sclerae, Bone pain, Brachycephaly, Brachydactyly, Carious teeth, Cognitive impairment, Delayed eruption of permanent teeth, Delayed eruption of primary teeth, Delayed eruption of teeth, Frontal bossing, Hepatomegaly, High forehead, Hydrocephalus, Hyperlordosis, Hypodontia, Increased bone mineral density, Kyphosis, Malar flattening, Micrognathia, Midface retrusion, Narrow chest, Narrow palate, Osteolysis, Osteolytic defects of the distal phalanges of the hand, Osteomyelitis, Persistence of primary teeth, Persistent open anterior fontanelle, Prominent nose, Prominent occiput, Proptosis, Recurrent fractures, Ridged nail, Scoliosis, Short distal phalanx of finger, Short stature, Short toe, Skeletal dysplasia, Splenomegaly, Spondylolisthesis, Spondylolysis, Wormian bones

abnormal osteoclast morphology, abnormal osteoclast physiology, abnormal phalanx morphology, abnormal prepulse inhibition, abnormal skeleton physiology, abnormal tooth development, abnormal uterus morphology, absent mandibular angle, decreased bone volume, decreased prepulse inhibition, growth/size/body region phenotype, increased bone mineral content, increased bone mineralization, increased bone ossification, increased bone trabecula number, increased bone volume, increased circulating alkaline phosphatase level, increased compact bone area, increased compact bone volume, increased diameter of tibia, increased grip strength, increased long bone epiphyseal plate size, increased osteoblast cell number, increased osteoclast cell number, increased trabecular bone connectivity density, increased trabecular bone mass, increased trabecular bone thickness, increased trabecular bone volume, skeleton phenotype, thick pulmonary interalveolar septum, thin neurocranium, ulcerated paws