Term Name: | dystonia 5 |
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Synonyms: | |
Definition: | A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13. |
Ontology: | Human Disease [DOID:0090043] ( DOID:0090043 ) |