Term Name: myoclonic dystonia 34
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.
Ontology: Human Disease [DOID:0060957]   ( DOID:0060957 )

Relationships
is a type of: autosomal dominant disease dystonia