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Metadata
DOID DOID:0090050
Name dystonia 27
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 compound heterozygous mutation in the COL6A3 gene on chromosome 2q37.
Xrefs

ICD10CM:G24.1

OMIM:616411

ORDO:464440

Relationships

is_a segmental dystonia

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