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GTR Home > Conditions/Phenotypes > Dystonia 22, juvenile-onset

Dystonia 22, juvenile-onset

Summary

Juvenile-onset dystonia-22 (DYT22JO) is an autosomal recessive disorder characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging (Mencacci et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BZRAP1, DYT22, PBR-IP, PRAX-1, PRAX1, RIM-BP1, RIMBP1, TSPOAP1
    Summary: TSPO associated protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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