Term Name: myoclonic dystonia 11
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.
Ontology: Human Disease [DOID:0090034]   ( DOID:0090034 )

Relationships
is a type of: autosomal dominant disease myoclonic dystonia