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Mucolipidosis Type II (I-Cell Disease)

Prevalence: 1/600000

lysosomal

Official·OMIM:252500 Official·ORPHA576

Lysosomal enzyme targeting defect due to GNPTAB gene mutations.

Associated Genes

GNPTABGlcNAc-1-Phosphotransferase Subunits Alpha And Beta

Chromosome 12Autosomal Recessive