Metadata | |
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ID | DOID:0090039 |
Name | torsion dystonia 6 |
Definition | A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. https://ghr.nlm.nih.gov/condition/dystonia-6, https://www.omim.org/entry/602629 |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a generalized dystonia |