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Human Disease

myoclonic dystonia 26

Term ID
DOID:0090036
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. (2)
References
Ontology
Human Disease   ( DOID:0090036 )
Relationships
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Genes Involved
Zebrafish Models