Term Name: | dystonia 27 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0090050] ( DOID:0090050 ) |