Mucolipidosis type 2 (Q91336)

Mucolipidosis II (or I-cell disease) (MLII) is a rare autosomal recessive lysosomal storage disease due to N-acetylglucosaminyl 1-phosphotransferase deficiency clinically and radiologically similar to Hurler disease (hypertrophic gingivae and enlarged tongue, coarse facies, hirsutism, hernias, cutaneous infiltration, limited joint mobility, dysostosis multiplex, hepatosplenomegaly, corneal opacities, deafness, intellectual deficit and motor retardation (obvious as early as the age of 6 months), and dwarfism), but with onset during the first months of life, or sometimes even before birth.