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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:0000020 | Urinary incontinence |
| HP:0000365 | Hearing impairment |
| HP:0000518 | Cataract |
| HP:0000639 | Nystagmus |
| HP:0000726 | Dementia |
| HP:0000789 | Infertility |
| HP:0001251 | Ataxia |
| HP:0001272 | Cerebellar atrophy |
| HP:0001347 | Hyperreflexia |
| HP:0001761 | Pes cavus |
