Gaucher disease type 3
ORPHA:77261· ICD-10 E75.2
Definition
Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- All ages