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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:0004302 | Functional motor deficit |
| HP:0004326 | Cachexia |
| HP:0004466 | Delayed brainstem auditory evoked response conduction time |
| HP:0005968 | Temperature instability |
| HP:0007103 | Hypointensity of cerebral white matter on MRI |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0009062 | Infantile axial hypotonia |
| HP:0010729 | Cherry red spot of the macula |
| HP:0011448 | Ankle clonus |
| HP:0011470 | Nasogastric tube feeding in infancy |
