dystonia 24

Term ID

DOID:0090052

Synonyms

Definition

A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14. (2)

References

• ICD10CM:G24.8
• OMIM:615034
• ORDO:420485

Ontology

Human Disease   ( DOID:0090052 )