| 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  |