Disease-gene associations mined from literature

Human genes for dystonia 16

Dystonia 16 [DOID:0090048]

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.

Synonyms:  dystonia 16,  DOID:0090048