Clinical presentation

Gaucher disease is a multisystem disease with great phenotypic variation between individuals. The heterogeneous symptoms observed often make diagnosis a significant challenge. However there are some symptoms and signs seen more commonly in the different types of Gaucher disease. Grabowski GA, Petsko GA, Kolodny EH. Chapter 146: Gaucher disease. Valle D, Beaudet AL, Vogelstein B, et al, eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill; 2013. Accessed July 6, 2015.

Type 1 disease
Type 2 disease
Type 3 disease