Mucolipidosis type II

MONDO:0009650

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

0 clinical trials for this condition and its sub-types, 0 tagged with Mucolipidosis type II itself.

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↑ Lysosomal storage disease with skeletal involvement (63) ↑ GNPTAB-mucolipidosis (0)

Including sub-types (0) Tagged with Mucolipidosis type II (0)

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