Metadata | |
---|---|
ID | DOID:0090042 |
Name | torsion dystonia 17 |
Definition | A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12. https://www.ncbi.nlm.nih.gov/pubmed/23596437, https://www.omim.org/entry/612406 |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a dystonia |