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MIRAGE
hereditary spastic paraplegia 46
Summary
- Synonym
-
- SPG46
- autosomal recessive spastic paraplegia 46
- autosomal recessive spastic paraplegia type 46
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110798
- Mondo Disease Ontology
- ORDO
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002059 | Cerebral atrophy |
| HP:0002061 | Lower limb spasticity |
| HP:0002078 | Truncal ataxia |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002136 | Broad-based gait |
| HP:0002346 | Head tremor |
| HP:0002355 | Difficulty walking |
| HP:0002464 | Spastic dysarthria |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002650 | Scoliosis |
