OBO ID: DOID:0090036 |
Term Name: | myoclonic dystonia 26 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0090036 ) |
OTHER myoclonic dystonia 26 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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