Search Ontology:
Human Disease
dystonia 22, juvenile-onset
- Term ID
- DOID:0060966
- 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. https://pubmed.ncbi.nlm.nih.gov/33539324/
- References
- Ontology
- Human Disease ( DOID:0060966 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models