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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

ICD10CM:G24.1

MIM:612406

ORDO:370103

Subsets

DO_rare_slim

Parent Relationships

is_a dystonia

is_a autosomal recessive disease

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