Myoclonic dystonia Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks. (Orphanet Rare Disease Ontology, Orphanet_36899)
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2 genes associated with the Myoclonic dystonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
DRD2 dopamine receptor D2
SGCE sarcoglycan, epsilon