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torsion dystonia with onset in infancy
Summary
- Definition
- A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.
- Super Class
- autosomal dominant disease generalized dystonia
External Links
- Disease Ontology
- DOID:0090058
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51649 | Succinate-semialdehyde dehydrogenase, mitochondrial |
