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myoclonic dystonia 34
Summary
- 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.
- Super Class
- autosomal dominant disease dystonia
External Links
- Disease Ontology
- DOID:0060957
- Mondo Disease Ontology
- OMIM
