Gargoylism associated with optic atrophy.
D001766:Blindness / Q000209:etiology; D003315:Cornea / Q000378:metabolism / Q000473:pathology; D004392:Dwarfism / Q000209:etiology; D004596:Electroretinography; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D009083:Mucopolysaccharidoses / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D009896:Optic Atrophy / Q000209:etiology*; D012168:Retinal Pigments
D006025:Glycosaminoglycans; D012168:Retinal Pigments