dystonia 22, adult-onset

Term ID

DOID:0060967

Synonyms

Definition

A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. https://pubmed.ncbi.nlm.nih.gov/33539324/

References

• OMIM:620456

Ontology

Human Disease   ( DOID:0060967 )