<unk> <unk> , ganglioside sialidase deficiency, or<unk>  is an autosomal recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations. The disorder is caused by mutations in the MCOLN1 gene, which encodes a non-selective cation channel, mucolipin1. These mutations disrupt cellular functions and lead to a neurodevelopmental disorder through an unknown mechanism. Researchers dispute the physiological role of the protein product and which ion it transports.
Mucolipidosis type IV
GM2-gangliosidosis, AB variant
GM1 gangliosidoses
Mucopolysaccharidosis type I
GM2 gangliosidoses
Glycogen storage disease type VI
Glycogen storage disease type V
Sphingolipidoses