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

Synonyms: I-cell disease N-acetylglucosamine 1-phosphotransferase deficiency Mucolipidosis type II alpha/beta

This is just here as a test because I lose it

Term information

database cross reference
hasDbXref

UMLS:C2931894

MeSH:C538602

OMIM:252500

UMLS:C0020725

ICD-10:E77.0

notation

ORPHA:576