Fragile teeth, Generalized hypotonia, Global developmental delay, Growth delay, Hepatomegaly, Hydrocephalus, Hydroxyprolinuria, Hypocalcemic seizures, Increased head circumference, Motor delay, Multiple rib fractures, Nystagmus, Optic atrophy, Optic nerve compression, Osteolysis, Osteopetrosis, Pathologic fracture, Premature loss of teeth, Progressive visual loss, Proptosis, Psychomotor retardation, Recurrent pneumonia, Splenomegaly, Thin bony cortex, Thrombocytopenia

abnormal long bone hypertrophic chondrocyte zone, abnormal mammary gland growth during pregnancy, abnormal mesenteric lymph node morphology, abnormal negative T cell selection, abnormal osteoblast morphology, abnormal osteoclast differentiation, abnormal osteoclast morphology, abnormal response/metabolism to endogenous compounds, abnormal skeleton physiology, abnormal thymus epithelium morphology, absent lymph nodes, decreased Peyer's patch number, decreased body size, decreased bone marrow cell number, decreased mature B cell number, decreased osteoclast cell number, decreased plasma cell number, decreased prostaglandin level, decreased spleen germinal center size, decreased susceptibility to endotoxin shock, domed cranium, impaired febrile response, increased bone trabecula number, increased bone volume, increased compact bone area, increased diameter of long bones, increased granulocyte number, increased long bone epiphyseal plate size, increased neutrophil cell number, increased trabecular bone thickness, increased trabecular bone volume, lactation failure, premature death, small Peyer's patches, spleen hyperplasia, tooth impaction