FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term myoclonic dystonia 34 ID (Ontology) DOID:0060957 (Human Disease)
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.
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 myoclonic dystonia 34       1
 for disease ribbon | myoclonic dystonia 34       1
 model of | myoclonic dystonia 34       1
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autosomal genetic disease
 |__autosomal dominant disease__
movement disease                |
 |__dystonia____________________|
                                myoclonic dystonia 34  1 rec.
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Is a autosomal dominant disease
dystonia
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MIM:619724