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Mucolipidosis Type II (I-Cell Disease)
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
GNPTAB
GlcNAc-1-Phosphotransferase Subunits Alpha And Beta
Chromosome 12
Autosomal Recessive