Accelerated atherosclerosis, Acute megakaryocytic leukemia, Acute pancreatitis, Aganglionic megacolon, Agnosia, Alzheimer disease, Anal atresia, Angina pectoris, Aortic atherosclerotic lesion, Apraxia, Atlantoaxial instability, Babinski sign, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Broad palm, Brushfield spots, Cataract, Cerebral cortical atrophy, Choroidal neovascularization, Cirrhosis, Clinodactyly of the 5th finger, Complete atrioventricular canal defect, Conductive hearing impairment, Corneal arcus, Decreased HDL cholesterol concentration, Decreased circulating GABA concentration, Decreased fertility, Dementia, Depressed nasal bridge, Depressed nasal ridge, Developmental regression, Diabetes mellitus, Downturned corners of mouth, Duodenal stenosis, Dysarthria, Dysphagia, Dystonia, Edema, Epicanthus, Flat face, Foveal hypopigmentation, Gait disturbance, Geographic atrophy, Glomerulopathy, Gout, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hyperpigmentation of the skin, Hypertriglyceridemia, Hypopigmentation of the skin, Hypoplastic iliac wing, Hypothyroidism, Hypotonia, Impaired pain sensation, Increased LDL cholesterol concentration, Intellectual disability, Long-tract signs, Lower limb hyperreflexia, Macroglossia, Macular degeneration, Macular drusen, Macular hemorrhage, Malar flattening, Mediastinal lymphadenopathy, Memory impairment, Mental deterioration, Mesangial hypercellularity, Microdontia, Microtia, Myeloproliferative disorder, Myoclonus, Myopia, Narrow mouth, Narrow palate, Neurofibrillary tangles, Obesity, Open mouth, Optic ataxia, Parkinsonism, Peripheral arterial stenosis, Personality changes, Petechiae, Premature coronary artery atherosclerosis, Prematurely aged appearance, Progressive visual loss, Proteinuria, Protruding tongue, Pulmonary infiltrates, Renal hypoplasia/aplasia, Renal insufficiency, Renal steatosis, Retinopathy, Round ear, Sandal gap, Sea-blue histiocytosis, Seizure, Shallow acetabular fossae, Short middle phalanx of the 5th finger, Short neck, Short nose, Short palm, Short stature, Single transverse palmar crease, Spastic tetraparesis, Splenomegaly, Strabismus, Subcutaneous nodule, Tendon xanthomatosis, Thick lower lip vermilion, Thickened nuchal skin fold, Thrombocytopenia, Type II diabetes mellitus, Type IV atherosclerotic lesion, Umbilical hernia, Upslanted palpebral fissure, Xanthelasma, obsolete Hypotrichosis, obsolete Joint laxity

abnormal cell-mediated immunity, abnormal cerebral cortex morphology, abnormal circulating LDL cholesterol level, abnormal circulating apolipoprotein E level, abnormal circulating cholesterol level, abnormal circulating lipid level, abnormal cochlea morphology, abnormal dendrite morphology, abnormal dendritic cell physiology, abnormal eye electrophysiology, abnormal gland physiology, abnormal glomerular capillary thrombosis, abnormal kidney arterial blood vessel morphology, abnormal kindling response, abnormal lipid homeostasis, abnormal lipid level, abnormal locomotor behavior, abnormal lung hysteresivity, abnormal lung volume, abnormal myelin sheath morphology, abnormal nursing, abnormal osteoblast physiology, abnormal pulmonary alveolus morphology, abnormal renal glomerulus morphology, abnormal response to CNS ischemic injury, abnormal response to new environment, abnormal retina inner nuclear layer morphology, abnormal sciatic nerve morphology, abnormal skeleton physiology, abnormal spatial learning, abnormal spiral modiolar artery morphology, abnormal stria vascularis morphology, abnormal susceptibility to atherosclerosis, abnormal synapse morphology, abnormal synaptic vesicle morphology, abnormal tectorial membrane morphology, abnormal thermal nociception, behavior/neurological phenotype, blood vessel inflammation, cardiac hypertrophy, cochlear ganglion degeneration, cochlear inner hair cell degeneration, cochlear outer hair cell degeneration, deafness, decreased body length, decreased brown adipose tissue mass, decreased cerebral infarct size, decreased cholesterol level, decreased circulating glucose level, decreased circulating homocysteine level, decreased epididymal fat pad weight, decreased exploration in new environment, decreased follicular B cell number, decreased hematocrit, decreased interferon-gamma secretion, decreased liver cholesterol level, decreased liver triglyceride level, decreased macrophage cell number, decreased marginal zone B cell number, decreased retina inner nuclear layer thickness, decreased startle reflex, decreased susceptibility to atherosclerosis, decreased susceptibility to type IV hypersensitivity reaction, decreased systemic vascular resistance, decreased triglyceride level, decreased vasodilation, decreased vertical activity, decreased white fat cell lipid droplet size, decreased white fat cell size, dilated glomerular capillary, homeostasis/metabolism phenotype, hypersecretion of corticosterone, impaired olfaction, improved glucose tolerance, increased CD4-positive, alpha beta T cell number, increased T-helper 2 cell number, increased airway resistance, increased anti-double stranded DNA antibody level, increased anti-nuclear antigen antibody level, increased anxiety-related response, increased autoantibody level, increased bone trabecula number, increased cardiac output, increased cardiac stroke volume, increased cholesterol efflux, increased cholesterol level, increased circulating alkaline phosphatase level, increased circulating phospholipid level, increased compact bone thickness, increased fluid intake, increased food intake, increased heart weight, increased insulin sensitivity, increased lung compliance, increased macrophage cell number, increased marginal zone B cell number, increased or absent threshold for auditory brainstem response, increased prostaglandin level, increased spleen weight, increased startle reflex, increased susceptibility to atherosclerosis, increased susceptibility to parasitic infection, increased susceptibility to systemic lupus erythematosus, increased susceptibility to weight gain, increased thigmotaxis, increased triglyceride level, kidney microaneurysm, nervous system phenotype, organ of Corti degeneration, oxidative stress, premature death, renal glomerulus lipidosis, skin lesions, spiral modiolar artery stenosis, thin retina outer nuclear layer, vascular stenosis