Term Name: | dystonia 22, juvenile-onset |
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Synonyms: | |
Definition: | A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22. |
Ontology: | Human Disease [DOID:0060966] ( DOID:0060966 ) |