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MIRAGE
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:0001270 | Motor delay |
| HP:0001288 | Gait disturbance |
| HP:0001337 | Tremor |
| HP:0001350 | Slurred speech |
| HP:0001761 | Pes cavus |
| HP:0002068 | Neuromuscular dysphagia |
| HP:0002301 | Hemiplegia |
| HP:0002312 | Clumsiness |
| HP:0002313 | Spastic paraparesis |
| HP:0002355 | Difficulty walking |
