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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 |
|---|---|---|
| Q6P1J6 | Phospholipase B1, membrane-associated |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003487 | Babinski sign |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0003552 | Muscle stiffness |
| HP:0004302 | Functional motor deficit |
| HP:0004326 | Cachexia |
| HP:0004466 | Delayed brainstem auditory evoked response conduction time |
| HP:0005968 | Temperature instability |
| HP:0006801 | Hyperactive deep tendon reflexes |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0007103 | Hypointensity of cerebral white matter on MRI |
