Mucolipid Storage Type IV

Kohn (1975) studied five Jewish patients and found a variant of mucolipid disease. In the same year, Merin identified this variant as a type IV of mucolipidosis, which is characterized by corneal opacity, mental retardation, and mental abnormality, but without bone changes and rough face.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.