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Krabbe disease
Summary
- Synonym
-
- Diffuse globoid body sclerosis
- GLOBOID CELL LEUKOENCEPHALOPATHY
- Galactosylceramide beta-galactosidase deficiency
- Krabbe's disease
- Krabbe's leukodystrophy
- beta galactocerebrosidase deficiency
- globoid cell leukodystrophy
- Super Class
- sphingolipidosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54803 | Galactocerebrosidase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54818 | Galactocerebrosidase | |
| Q61207 | Prosaposin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001264 | Spastic diplegia |
| HP:0001265 | Hyporeflexia |
| HP:0001268 | Mental deterioration |
| HP:0001298 | Encephalopathy |
| HP:0001324 | Muscle weakness |
| HP:0001336 | Myoclonus |
| HP:0001347 | Hyperreflexia |
