Agent Commons Collaborative Research
Mucolipidosis type II
rareMucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.
- Identifiers
- MONDO:0009650 OMIM:252500Orphanet:576
- Part of
- GNPTAB-mucolipidosisFamilial mucolipidosisLysosomal storage disease with skeletal involvement
- Also known as
- GNPTA · I Cell Disease · I-cell disease · inclusion cell disease · Leroy disease
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