Anemia, Apnea, Blindness, Bone pain, Bowing of the long bones, Bruising susceptibility, Carious teeth, Chronic rhinitis, Chronic rhinitis due to narrow nasal airway, Cranial hyperostosis, Cranial nerve compression, Cranial nerve paralysis, Craniosynostosis, Delayed eruption of teeth, Diaphyseal sclerosis, Extramedullary hematopoiesis, Facial paralysis, Genu valgum, Growth delay, Hearing impairment, Hepatomegaly, Hepatosplenomegaly, Hydrocephalus, Hypocalcemia, Hypophosphatemia, Lymphadenopathy, Macrocephaly, Mandibular osteomyelitis, Mandibular prognathia, Narrow chest, Nystagmus, Opsoclonus, Optic atrophy, Optic nerve compression, Osteomyelitis, Osteopetrosis, Otitis media, Pallor, Pancytopenia, Persistence of primary teeth, Premature loss of primary teeth, Pulmonary arterial hypertension, Pulmonary artery stenosis, Recurrent fractures, Recurrent respiratory infections, Reduced bone mineral density, Splenomegaly, Thrombocytopenia, Tremor, Visual impairment

abnormal long bone metaphysis morphology, abnormal mammary gland growth during pregnancy, abnormal maternal nurturing, abnormal neurocranium morphology, abnormal osteoblast physiology, abnormal osteoclast cell number, abnormal osteoclast morphology, abnormal pro-B cell differentiation, abnormal spleen B cell follicle morphology, abnormal spleen marginal zone morphology, abnormal splenic cell ratio, abnormal tail length, abnormal thymus cell ratio, abnormal thymus epithelium morphology, abnormal zygomatic bone morphology, absent cervical lymph nodes, absent lymph nodes, absent mesenteric lymph nodes, absent peripheral lymph nodes, arrested T cell differentiation, decreased Langerhans cell number, decreased Peyer's patch number, decreased body size, decreased bone marrow cell number, decreased bone mineral density of femur, decreased bone mineralization, decreased bone stiffness, decreased bone strength, decreased bone trabecula number, decreased cranium height, decreased immature B cell number, decreased interferon-gamma secretion, decreased interleukin-2 secretion, decreased interleukin-4 secretion, decreased interleukin-5 secretion, decreased interleukin-6 secretion, decreased internal diameter of femur, decreased lean body mass, decreased mature B cell number, decreased osteoclast cell number, decreased spleen white pulp amount, decreased thymus weight, decreased trabecular bone mass, enlarged thymus medulla, growth/size/body region phenotype, hematopoietic system phenotype, homeostasis/metabolism phenotype, immune system phenotype, increased areal bone mineral density, increased bone mass, increased bone mineral content, increased bone mineralization, increased bone trabecula number, increased bone volume, increased circulating alkaline phosphatase level, increased diameter of long bones, increased diameter of tibia, increased long bone epiphyseal plate size, increased osteoclast cell number, increased spleen red pulp amount, increased spleen weight, increased trabecular bone thickness, increased trabecular bone volume, increased width of hypertrophic chondrocyte zone, lactation failure, mandible hypoplasia, optic canal stenosis, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, postnatal lethality, incomplete penetrance, premature death, reduced fertility, skeleton phenotype, skin edema, small Peyer's patches, small cranium, small thymus medulla, thin neurocranium