Metadata | |
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ID | DOID:0060957 |
Name | myoclonic dystonia 34 |
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. https://pubmed.ncbi.nlm.nih.gov/32212350/ |
Xrefs | |
Parent Relationships |
is_a dystonia |