An autosomal recessive lysosomal storage disease caused by mutations in the mcoln1 gene. it is characterized by psychomotor developmental delays and ophthalmologic abnormalities.

Mucolipidosis type IV (ML IV, ganglioside sialidase deficiency, or ML4) is an autosomal recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations...