A mild variant of mucolipidosis type 4 (ML4).
D001706:Biopsy; D002648:Child; D003228:Conjunctiva / Q000473:pathology; D003315:Cornea / Q000473:pathology; D003318:Corneal Opacity / Q000235:genetics; D005347:Fibroblasts / Q000473:pathology; D014644:Genetic Variation; D006801:Humans; D008214:Lymphocytes / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D009081:Mucolipidoses / Q000145:classification / Q000235:genetics* / Q000473:pathology