Cataract, Cherry red spot of the macula, Coarse facial features, Corneal opacity, Decreased nerve conduction velocity, Delayed skeletal maturation, Delayed speech and language development, Dysmetria, Dysostosis multiplex, Dysphonia, Dyspnea, EEG abnormality, Epiphyseal stippling, Facial edema, Flexion contracture, Frontal bossing, Gait disturbance, Generalized hypotonia, Global developmental delay, Hearing impairment, Hepatomegaly, Hernia, Hydrops fetalis, Hyperkeratosis, Hyperreflexia, Hypotonia, Increased urinary O-linked sialopeptides, Intellectual disability, Kyphosis, Muscle weakness, Myoclonus, Nephropathy, Neurological speech impairment, Nystagmus, Osteoporosis, Pectus carinatum, Pedal edema, Progressive visual loss, Proteinuria, Retinopathy, Scoliosis, Seizure, Sensorineural hearing impairment, Short stature, Short thorax, Skeletal dysplasia, Skeletal muscle atrophy, Slurred speech, Splenomegaly, Thick lower lip vermilion, Tremor, Umbilical hernia, Urinary excretion of sialylated oligosaccharides, Vacuolated lymphocytes, Vascular skin abnormality, Visual impairment, Wide nasal bridge