Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells.

Because the defective genes involved in certain forms of ML are known, tests can identify people who are carriers in some instances.

The diagnosis of ML is based on clinical symptoms, a complete medical history, and certain laboratory tests.

Early symptoms can include skeletal abnormalities, vision problems, and developmental delays.

Poor mental capacities and difficulty reaching physical developmental milestones may also be the result of mucolipidosis.