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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:0003477 | Peripheral axonal neuropathy |
| HP:0003487 | Babinski sign |
| HP:0006938 | Impaired vibration sensation at ankles |
| HP:0006986 | Upper limb spasticity |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0007371 | Corpus callosum atrophy |
| HP:0008003 | Jerky ocular pursuit movements |
| HP:0008734 | Decreased testicular size |
| HP:0012207 | Reduced sperm motility |
| HP:0012864 | Abnormal sperm morphology |
