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Troyer syndrome
Summary
- Synonym
-
- SPG20
- autosomal recessive spastic paraplegia 20
- autosomal recessive spastic paraplegia Troyer type
- autosomal recessive spastic paraplegia type 20
- childhood-onset spastic paraparesis with distal muscle wasting
- hereditary spastic paraplegia 20
- spastic paraplegia 20
- spastic paraplegia type 20
- Definition
- A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0050886
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 | |
| 51302 | CYP39A1 | cytochrome P450 family 39 subfamily A member 1 | |
| 57704 | GBA2 | glucosylceramidase beta 2 | |
| 84188 | FAR1 | fatty acyl-CoA reductase 1 | |
| 85465 | SELENOI | selenoprotein I | |
| 113612 | CYP2U1 | cytochrome P450 family 2 subfamily U member 1 |
Related Glycoprotein
