Mucolipidosis type II

Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.

Also known as: I Cell Disease, I-cell disease, N-acetylglucosamine 1-phosphotransferase deficiency, mucolipidosis type II, mucolipidosis type II alpha/beta, GNPTA, I cell disease, Leroy disease

64 clinical trials for this condition and its sub-types.