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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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models