Abnormality of the nervous system, Abnormality of visual evoked potentials, Abnormal metaphysis morphology, Abnormal pulmonary valve morphology, Abnormal rib morphology, Acute lymphoblastic leukemia, Acute myeloid leukemia, Anemia, Antineutrophil antibody positivity, Aplastic anemia, Apnea, Back pain, Blindness, Bone pain, Bowing of the long bones, Bruising susceptibility, Carious teeth, Cellulitis, Chronic infection, Chronic rhinitis, Cortical sclerosis, Coxa vara, Cranial nerve compression, Cranial nerve paralysis, Craniosynostosis, Delayed eruption of teeth, Dense metaphyseal bands, Dental malocclusion, Diarrhea, Elevated circulating alkaline phosphatase concentration, Eosinophilia, Erlenmeyer flask deformity of the femurs, Facial palsy, Facial paralysis, Failure to thrive, Fever, Flared metaphysis, Frontal bossing, Generalized osteosclerosis, Gingivitis, Growth delay, Hearing impairment, Hemangioma, Hepatomegaly, Hepatosplenomegaly, Hydrocephalus, Hypocalcemia, Hypophosphatemia, Increased susceptibility to fractures, Leukemia, Lymphadenopathy, Lymphopenia, Macrocephaly, Monocytosis, Myelodysplasia, Narrow chest, Neutropenia, Nystagmus, Ophthalmoparesis, Opsoclonus, Optic atrophy, Optic atrophy from cranial nerve compression, Optic nerve compression, Oral ulcer, Osteomyelitis, Osteopenia, Osteopetrosis, Osteosclerosis of the base of the skull, Otitis media, Pallor, Pancytopenia, Pathologic fracture, Periodontitis, Pharyngitis, Pneumonia, Premature loss of primary teeth, Premature loss of teeth, Pulmonary arterial hypertension, Pulmonary artery stenosis, Pyoderma gangrenosum, Recurrent aphthous stomatitis, Recurrent bacterial infections, Recurrent ear infections, Recurrent fractures, Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent skin infections, Recurrent viral infections, Reduced bone mineral density, Rhinitis, Sandwich appearance of vertebral bodies, Seizure, Splenomegaly, Tetany, Tremor, Visual impairment

abnormal predentin morphology, abnormal spleen B cell corona morphology, abnormal spleen B cell follicle morphology, abnormal spleen periarteriolar lymphoid sheath morphology, abnormal spleen red pulp morphology, abnormal spleen white pulp morphology, absent compact bone, absent teeth, cellular phenotype, circling, decreased body size, decreased insulin secretion, failure of bone resorption, increased bone mineral content, increased granulocyte number, increased IgG1 level, increased IgG2a level, increased long bone epiphyseal plate size, increased osteoclast cell number, increased spleen germinal center number, increased trabecular bone mass, increased width of hypertrophic chondrocyte zone, no abnormal phenotype detected, postnatal lethality, complete penetrance, premature death, skeleton phenotype, thymus atrophy