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dystonia 22, juvenile-onset
Summary
- 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.
- Super Class
- autosomal recessive disease dystonia
External Links
- Disease Ontology
- DOID:0060966
- Mondo Disease Ontology
- OMIM
