Term Name: myoclonic dystonia 26
Synonyms:
Definition: A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12.
Ontology: Human Disease [DOID:0090036]   ( DOID:0090036 )

Relationships
is a type of: autosomal dominant disease myoclonic dystonia