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

• OMIM:620453

Ontology

Human Disease   ( DOID:0060966 )