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GTR Home > Conditions/Phenotypes > Dystonia 27

Dystonia 27

Summary

Dystonia-27 (DYT27) is an autosomal recessive neurologic disorder characterized by onset of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs in the first 2 decades of life (summary by Zech et al., 2015). [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BTHLM1, BTHLM1C, DYT27, UCMD1, UCMD1C, COL6A3
    Summary: collagen type VI alpha 3 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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