dystonia 16 (DOID:0090048)
Alliance: disease page
Alt IDs: OMIM:612067, ICD10CM:G24.1, MESH:C567430, ORDO:210571
Definition: A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31.