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dystonia 27
Summary
- Definition
- A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37.
- Super Class
- autosomal recessive disease segmental dystonia
External Links
- Disease Ontology
- DOID:0090050
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P12111 | Collagen alpha-3(VI) chain |
