OBO ID: DOID:0090034
Term Name: myoclonic dystonia 11 Search Ontology:
Synonyms:
Definition: A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. (2)
References:
Ontology: Human Disease   (DOID:0090034)
OTHER myoclonic dystonia 11 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SGCE Dystonia-11, myoclonic 159900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None