I-cell Disease (Inclusion Cell Disease)
- Mucolipidosis II
- Autosomal Recessive
- Defective N-acetylglucosaminyl-1-phosphotransferase
- Absent Mannose-6-Phosphate on Glycoproteins
- Accumulation of Lysosomal Debris
- Coarse Facies
- Corneal Clouding
- Skeletal Abnormalities
- Increased Plasma Lysosomal Enzymes
- Inclusion Bodies
- Poor Prognosis