Gaucher's disease perinatal lethal (Q32145279)
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Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22
- Gaucher Disease, Collodion Type
- Fetal Gaucher Disease
- GDPL
Language | Label | Description | Also known as |
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English | Gaucher's disease perinatal lethal |
Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22 |
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