| Metadata | |
|---|---|
| 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 autosomal dominant disease is_a dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |