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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

MIM:619724

Parent Relationships

is_a dystonia

is_a autosomal dominant disease

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