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X-linked dystonia-parkinsonism
Summary
- Definition
- A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1.
- Super Class
- X-linked recessive disease focal dystonia
External Links
- Disease Ontology
- DOID:0090057
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00558 | Phosphoglycerate kinase 1 | |
| P51649 | Succinate-semialdehyde dehydrogenase, mitochondrial |
