Abnormal heart valve morphology, Abnormal macular morphology, Abnormal myocardium morphology, Abnormal nasal morphology, Abnormal pattern of respiration, Abnormal pericardium morphology, Abnormal pleura morphology, Abnormal pulmonary interstitial morphology, Abnormal pupil morphology, Abnormal renal physiology, Abnormal saccadic eye movements, Abnormality of extrapyramidal motor function, Abnormality of movement, Abnormality of mucopolysaccharide metabolism, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Abnormality of the kidney, Abnormality of the nervous system, Abnormality of the orbital region, Abnormality of the peritoneum, Abnormality of the skeletal system, Abnormality of the spleen, Absent speech, Achlorhydria, Acrocyanosis, Acute promyelocytic leukemia, Akinesia, Alacrima, Anemia, Anorexia, Anteverted nares, Aortic valve calcification, Apathy, Aplasia/Hypoplasia of the abdominal wall musculature, Apnea, Apraxia, Arthralgia, Arthrogryposis multiplex congenita, Ascites, Ataxia, Attention deficit hyperactivity disorder, Autoimmune thrombocytopenia, Avascular necrosis, Babinski sign, Behavioral abnormality, Bilateral tonic-clonic seizure, Biliary tract obstruction, Biparietal narrowing, Bipolar affective disorder, Bone pain, Bone-marrow foam cells, Bradykinesia, Bruising susceptibility, Bulbar signs, Calcification of the aorta, Cardiac arrest, Cardiomegaly, Cerebellar atrophy, Cerebral atrophy, Cerebral dysmyelination, Cherry red spot of the macula, Cholelithiasis, Cirrhosis, Coarse facial features, Congenital nonbullous ichthyosiform erythroderma, Congestive heart failure, Constipation, Corneal erosion, Corneal opacity, Corneal ulceration, Coronary artery atherosclerosis, Cough, Cranial nerve paralysis, Decreased HDL cholesterol concentration, Decreased beta-glucocerebrosidase level, Decreased body weight, Decreased corneal reflex, Decreased fetal movement, Decreased light- and dark-adapted electroretinogram amplitude, Decreased liver function, Decreased number of large peripheral myelinated nerve fibers, Decreased sensitivity to hypoxemia, Decreased serum insulin-like growth factor 1, Delayed gross motor development, Delayed puberty, Delayed skeletal maturation, Dementia, Depressed nasal bridge, Depression, Desquamation of skin soon after birth, Developmental regression, Developmental stagnation, Diarrhea, Diffuse reticular or finely nodular infiltrations, Dysarthria, Dysphagia, Dysplastic corpus callosum, Dyspnea, Dystonia, EEG abnormality, EMG abnormality, Ectropion, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration, Emotional lability, Encephalopathy, Episodic hyperhidrosis, Epistaxis, Erlenmeyer flask deformity of the femurs, Esotropia, Everted lower lip vermilion, Everted upper lip vermilion, Failure to thrive, Fatigue, Feeding difficulties, Feeding difficulties in infancy, Fetal akinesia sequence, Fever, Flexion contracture, Foam cells with lamellar inclusion bodies, Gait disturbance, Ganglioside accumulation, Gastroesophageal reflux, Generalized hypotonia, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Genu recurvatum, Gingival bleeding, Global developmental delay, Glomerular sclerosis, Glomerulopathy, Growth delay, Hallucinations, Hearing impairment, Hematuria, Hemiplegia/hemiparesis, Hepatic failure, Hepatitis, Hepatomegaly, Hepatosplenomegaly, Heterochromia iridis, High palate, Horizontal nystagmus, Horizontal supranuclear gaze palsy, Hydrocephalus, Hydrops fetalis, Hypergastrinemia, Hyperhidrosis, Hyperkeratosis, Hyperlipidemia, Hyperpigmentation of the skin, Hyperreflexia, Hypersplenism, Hypertelorism, Hypertension, Hypertriglyceridemia, Hypogeusia, Hypohidrosis, Hypometric horizontal saccades, Hyponatremia, Hyporeflexia, Hypotonia, Ichthyosis, Impaired pain sensation, Incoordination, Increased LDL cholesterol concentration, Increased blood urea nitrogen, Increased bone mineral density, Increased circulating antibody level, Increased susceptibility to fractures, Intellectual disability, Intracranial hemorrhage, Intrauterine growth retardation, Joint dislocation, Joint stiffness, Kyphosis, Leukopenia, Lewy bodies, Low-set ears, Low-set, posteriorly rotated ears, Macular atrophy, Malignant hyperthermia, Mask-like facies, Microcephaly, Microdontia, Micrognathia, Micrographia, Microtia, Mitral stenosis, Mitral valve calcification, Motor delay, Multiple myeloma, Myoclonus, Myopia, Narrow mouth, Neoplasm of the liver, Neurological speech impairment, Neuronal loss in central nervous system, Neuropathic arthropathy, Nonimmune hydrops fetalis, Nystagmus, Oculomotor apraxia, Opacification of the corneal stroma, Open mouth, Ophthalmoplegia, Opisthotonus, Optic atrophy, Orthostatic hypotension, Osteoarthritis, Osteolysis, Osteomyelitis, Osteopenia, Osteoporosis, Palmoplantar keratoderma, Pancytopenia, Parkinsonism, Pathologic fracture, Pedal edema, Pericardial effusion, Peripheral neuropathy, Personality changes, Pes cavus, Petechiae, Photophobia, Polyhydramnios, Postural instability, Premature birth, Progressive neurologic deterioration, Progressive pulmonary function impairment, Proteinuria, Protuberant abdomen, Psychomotor retardation, Pulmonary arterial hypertension, Pulmonary fibrosis, Pulmonary infiltrates, Purpura, Recurrent aspiration pneumonia, Recurrent corneal erosions, Recurrent fever, Recurrent fractures, Recurrent infections due to aspiration, Recurrent respiratory infections, Renal insufficiency, Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Resting tremor, Reticular hyperpigmentation, Retinal degeneration, Retinopathy, Retrognathia, Rigidity, Scoliosis, Sea-blue histiocytosis, Seizure, Short nose, Short stature, Short stepped shuffling gait, Sleep disturbance, Slowed horizontal saccades, Spastic paraparesis, Spastic tetraplegia, Spasticity, Specific learning disability, Splenomegaly, Strabismus, Substantia nigra gliosis, Supranuclear ophthalmoplegia, Systemic lupus erythematosus, Tachycardia, Thoracic hypoplasia, Thrombocytopenia, Tremor, Triangular face, Trismus, Urinary urgency, Vascular calcification, Ventriculomegaly, Vertebral compression fracture, Visual impairment, Vomiting, Weak voice

abnormal response to transplant, abnormal skeleton physiology, abnormal skin condition, abnormal thymus morphology, absent gastric milk in neonates, alpha-synuclein inclusion body, aphagia, decreased Purkinje cell number, decreased birth body size, decreased birth weight, decreased body size, decreased bone ossification, decreased brain size, decreased cerebral cortex pyramidal cell number, decreased circulating interleukin-1 alpha level, decreased circulating interleukin-1 beta level, decreased circulating interleukin-6 level, decreased circulating tumor necrosis factor level, decreased double-positive T cell number, decreased erythrocyte cell number, decreased hematocrit, decreased hemoglobin content, decreased mean corpuscular volume, decreased skin turgor, decreased survivor rate, hippocampal neuron degeneration, increased circulating alanine transaminase level, increased circulating aspartate transaminase level, increased circulating interferon-gamma level, increased circulating interleukin-10 level, increased circulating interleukin-13 level, increased circulating interleukin-2 level, increased circulating interleukin-3 level, increased circulating interleukin-9 level, increased hepatocyte apoptosis, increased liver weight, increased spleen weight, intermingled spleen red and white pulp, lipofuscinosis, neonatal lethality, complete penetrance, neuron degeneration, no abnormal phenotype detected, pale liver, perinatal lethality, complete penetrance, postnatal lethality, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, preweaning lethality, complete penetrance, skeleton phenotype, spleen hyperplasia