Term Name: dystonia 27
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 )

Relationships
is a type of: autosomal recessive disease segmental dystonia