Term Name: | myoclonic dystonia 26 |
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Synonyms: | |
Definition: | A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12. |
Ontology: | Human Disease [DOID:0090036] ( DOID:0090036 ) |