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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
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002166 | Impaired vibration sensation in the lower limbs |
| HP:0002310 | Orofacial dyskinesia |
| HP:0002378 | Hand tremor |
| HP:0002406 | Limb dysmetria |
| HP:0002495 | Impaired vibratory sensation |
| HP:0002808 | Kyphosis |
| HP:0003621 | Juvenile onset |
| HP:0003676 | Progressive |
| HP:0003690 | Limb muscle weakness |
| HP:0007340 | Lower limb muscle weakness |
