Term Name: dystonia 22, juvenile-onset
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.
Ontology: Human Disease [DOID:0060966]   ( DOID:0060966 )

Relationships
is a type of: autosomal recessive disease dystonia