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Human Disease

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
Ontology
Human Disease   ( DOID:0060957 )
Relationships
is a type of
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Genes Involved
Zebrafish Models