Anteverted nares, Aortic regurgitation, Atlantoaxial dislocation, Beaking of vertebral bodies T12-L3, Broad alveolar ridges, Broad ribs, Bullet-shaped phalanges of the hand, Cardiomegaly, Carpal bone hypoplasia, Cavernous hemangioma, Cleft palate, Coarse facial features, Cognitive impairment, Congestive heart failure, Constrictive median neuropathy, Corneal dystrophy, Corneal erosion, Corneal opacity, Craniofacial hyperostosis, Craniosynostosis, Deficiency of N-acetylglucosamine-1-phosphotransferase, Depressed nasal bridge, Diastasis recti, Dysostosis multiplex, Epicanthus, Failure to thrive, Fatigue, Flared iliac wing, Flat acetabular roof, Generalized hirsutism, Global developmental delay, Hearing abnormality, Heart murmur, Hepatomegaly, Hernia, High forehead, Hip dislocation, Hoarse voice, Hyperlordosis, Hyperopic astigmatism, Hypertrophic cardiomyopathy, Hypoplasia of the odontoid process, Hypoplastic inferior ilia, Hypoplastic scapulae, Increased iduronate sulfatase level, Increased serum beta-hexosaminidase, Intellectual disability, Irregular carpal bones, J-shaped sella turcica, Joint stiffness, Kyphosis, Lack of skin elasticity, Large iliac wing, Large sella turcica, Long philtrum, Lower thoracic interpediculate narrowness, Macroglossia, Mandibular prognathia, Megalocornea, Metaphyseal widening, Myelopathy, Narrow forehead, Neonatal hypotonia, Opacification of the corneal stroma, Osteopenia, Ovoid vertebral bodies, Palpebral edema, Pathologic fracture, Progressive alveolar ridge hypertropy, Prominent occiput, Protuberant abdomen, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Reduced bone mineral density, Retinal degeneration, Retinopathy, Scoliosis, Severe global developmental delay, Severe postnatal growth retardation, Shallow acetabular fossae, Short long bone, Short ribs, Short stature, Soft tissue swelling of interphalangeal joints, Specific learning disability, Splenomegaly, Split hand, Talipes equinovarus, Thickened calvaria, Thickened skin, Thin skin, Thoracolumbar kyphoscoliosis, Umbilical hernia, Urinary glycosaminoglycan excretion, Varus deformity of humeral neck, Visual impairment, Weight loss, Wide intermamillary distance, obsolete Sparse and thin eyebrow

abnormal exocrine pancreas morphology, abnormal eye electrophysiology, abnormal fertility/fecundity, abnormal hippocampus CA1 region morphology, abnormal hippocampus CA3 region morphology, abnormal lateral nasal gland morphology, abnormal limb morphology, abnormal long bone diaphysis morphology, abnormal lysosome morphology, abnormal osteoblast morphology, abnormal osteoclast physiology, abnormal osteocyte morphology, abnormal pancreatic acinar cell morphology, abnormal pancreatic acinar cell zymogen granule morphology, abnormal parotid gland acinus morphology, abnormal retina photoreceptor layer morphology, abnormal skeleton development, abnormal skin turgor, abnormal spine curvature, abnormal submandibular gland morphology, axonal spheroids, decreased body length, decreased body size, decreased bone mass, decreased bone mineral content, decreased brain size, decreased lean body mass, decreased osteoblast cell number, decreased survivor rate, decreased trabecular bone volume, flattened snout, impaired osteoblast differentiation, increased circulating type I collagen C-terminal telopeptide level, increased interleukin-6 secretion, increased lysosomal enzyme secretion, increased osteoclast cell number, limb grasping, lysosomal protein accumulation, no abnormal phenotype detected, penis prolapse, premature death, prenatal lethality, incomplete penetrance, preweaning lethality, incomplete penetrance, retina photoreceptor degeneration, small nasal bridge, thick eyelids, thick skin