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 )
Relationships
is a type of:
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
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