Gaucher's disease type II (Q32145247)
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Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22
- GD II
- Infantile Cerebral Gaucher Disease
- Gaucher Disease, Acute Neuronopathic Type
Language | Label | Description | Also known as |
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English | Gaucher's disease type II |
Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22 |
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