Gaucher disease type 2
Synonyms: Acute neuronopathic Gaucher disease | Infantile cerebral Gaucher disease
Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Gaucher disease type 2?
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Clinical Trials
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