Term Name: | myoclonic dystonia 34 |
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Synonyms: | |
Definition: | A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22. |
Ontology: | Human Disease [DOID:0060957] ( DOID:0060957 ) |