OBO ID: DOID:0090036
Term Name: myoclonic dystonia 26 Search Ontology:
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 )
OTHER myoclonic dystonia 26 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KCTD17 Dystonia 26, myoclonic 616398
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None