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Gaucher disease type II
rareGaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
- Identifiers
- MONDO:0009266 OMIM:230900Orphanet:77260
- Causal genes
- GBA1
- Part of
- Gaucher disease
- Also known as
- acute neuronopathic Gaucher disease · Gaucher disease, acute neuronopathic type · Gaucher disease, infantile cerebral · Gaucher's disease type II · infantile cerebral Gaucher disease
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