myoclonic dystonia 34

Term ID

DOID:0060957

Synonyms

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/

References

• OMIM:619724

Ontology

Human Disease   ( DOID:0060957 )