Visualize Submit Comment

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	MIM:620453
Parent Relationships	is_a dystonia is_a autosomal recessive disease