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 )

Relationships
is a type of: autosomal recessive disease multifocal dystonia