Term Name: | dystonia 16 |
---|---|
Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0090048] ( DOID:0090048 ) |