| Metadata | |
|---|---|
| ID | DOID:0060966 |
| Name | dystonia 22, juvenile-onset |
| 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/ |
| Xrefs | |
| Parent Relationships |
is_a dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |