A lysosomal storage disease with severe dwarfism, severe joint contractures, mild-moderate mental retardation, corneal opacities and retinal abnormalities.
D002675:Child, Preschool; D003286:Contracture / Q000150:complications*; D003318:Corneal Opacity / Q000150:complications*; D004392:Dwarfism / Q000150:complications*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008064:Lipidoses / Q000150:complications*; D008297:Male; D012164:Retinal Diseases / Q000150:complications; D012867:Skin / Q000473:pathology