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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 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000365 | Hearing impairment |
| HP:0000467 | Neck muscle weakness |
| HP:0000572 | Visual loss |
| HP:0000613 | Photophobia |
| HP:0000618 | Blindness |
| HP:0000648 | Optic atrophy |
| HP:0000649 | Abnormality of visual evoked potentials |
| HP:0000737 | Irritability |
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0001053 | Hypopigmented skin patches |
