Term Name: | dystonia 24 |
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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. |
Ontology: | Human Disease [DOID:0090052] ( DOID:0090052 ) |