dystonia 27

Term ID

DOID:0090050

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. (2)

References

• ICD10CM:G24.1
• OMIM:616411
• ORDO:464440

Ontology

Human Disease   ( DOID:0090050 )