dystonia 27 (DOID:0090050)
Alliance: disease page
Alt IDs: OMIM:616411, ICD10CM:G24.1, ORDO:464440
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.