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Summary Literature (0)
DOID:0090036 - myoclonic dystonia 26


Disease Ontology 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.

Synonyms:

Xenbase Genes : kctd17

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014620 - myoclonic dystonia 26


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), myoclonic dystonia (is_a)