Mucolipidosis Type IV (ML4) is an autosomal recessive genetic disease resulting from a defect in a single gene which reduces or eliminates the MCLN1 protein in the body. Absence or reduction of this protein causes severe psychomotor delays, neurodegenerative disease, corneal clouding, progressive retinal degeneration usually leading to blindness, delayed or decreased myelination, and achlorhydria (lack of stomach acid). There are currently no treatments for MLIV.

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