Abnormality of the voice, Abnormality of thrombocytes, Anemia, Arthralgia, Arthritis, Blindness, Blurred vision, Brachydactyly, Broad foot, Camptodactyly of finger, Conjunctival hyperemia, Conjunctivitis, Cranial nerve paralysis, Dehydration, Delayed closure of the anterior fontanelle, Delayed puberty, Dysesthesia, EEG abnormality, Edema, Elevated circulating C-reactive protein concentration, Elevated erythrocyte sedimentation rate, Epiphora, Episcleritis, Erythema, Fatigue, Fever, Frontal bossing, Gastroschisis, Glaucoma, Global developmental delay, Growth delay, Headache, Hearing impairment, Hepatomegaly, Hyperhidrosis, Ichthyosis, Increased intracranial pressure, Inflammatory abnormality of the eye, Intellectual disability, Joint dislocation, Keratitis, Leukocytosis, Lymphadenopathy, Macrocephaly, Meningitis, Migraine, Myalgia, Nausea and vomiting, Nephropathy, Nephrotic syndrome, Opacification of the corneal stroma, Optic atrophy, Papule, Periodic fever, Pes cavus, Photophobia, Polydipsia, Premature birth, Progressive sensorineural hearing impairment, Proptosis, Pruritus, Pseudopapilledema, Purpura, Recurrent aphthous stomatitis, Recurrent fever, Reduced bone mineral density, Renal amyloidosis, Renal insufficiency, Restrictive ventilatory defect, Retrobulbar optic neuritis, Sensorineural hearing impairment, Short stature, Skeletal dysplasia, Skin rash, Splenomegaly, Urticaria, Uveitis, Vasculitis, Visual impairment

abnormal kidney morphology, abnormal long bone hypertrophic chondrocyte zone, abnormal macrophage cytokine production, abnormal macrophage physiology, abnormal osteoclast differentiation, abnormal response to infection, abnormal skeleton development, abnormal spleen red pulp morphology, adipose tissue inflammation, chronic inflammation, decreased bone mass, decreased bone trabecula number, decreased cell proliferation, decreased chondrocyte number, decreased circulating interleukin-1 beta level, decreased circulating interleukin-12b level, decreased circulating interleukin-18 level, decreased circulating interleukin-5 level, decreased compact bone area, decreased energy expenditure, decreased erythrocyte cell number, decreased femur size, decreased interleukin-1 beta secretion, decreased lactate dehydrogenase level, decreased survivor rate, decreased susceptibility to endotoxin shock, decreased susceptibility to experimental autoimmune encephalomyelitis, decreased susceptibility to induced colitis, decreased susceptibility to type IV hypersensitivity reaction, decreased trabecular bone mass, decreased trabecular bone thickness, decreased width of hypertrophic chondrocyte zone, dermatitis, disorganized long bone epiphyseal plate, enlarged lymph nodes, immune system phenotype, increased T-helper 1 cell number, increased activated T cell number, increased anti-double stranded DNA antibody level, increased body fat mass, increased circulating interleukin-1 beta level, increased circulating interleukin-13 level, increased circulating interleukin-18 level, increased circulating interleukin-3 level, increased circulating interleukin-4 level, increased circulating interleukin-6 level, increased circulating interleukin-9 level, increased circulating tumor necrosis factor level, increased granulocyte number, increased interferon-gamma secretion, increased interleukin-1 beta secretion, increased interleukin-17 secretion, increased interleukin-18 secretion, increased liver triglyceride level, increased liver weight, increased neutrophil cell number, increased osteoclast cell number, increased susceptibility to diet-induced obesity, increased susceptibility to type IV hypersensitivity reaction, meningitis, no abnormal phenotype detected, oxidative stress, perinatal lethality, complete penetrance, postnatal lethality, complete penetrance, reduced fertility, slow postnatal weight gain