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The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.
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Mucolipidosis Type IV
Mucolipidosis Type IV
Prevalence:
1/300000
lysosomal
Official
·
OMIM:252650
Official
·
ORPHA578
Lysosomal storage disease due to MCOLN1 gene mutations.
Associated Genes
MCOLN1
Mucolipin TRP Cation Channel 1
Chromosome 19
Autosomal Recessive