dystonia 16

Term ID

DOID:0090048

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. (3)

References

• GARD:10539
• ICD10CM:G24.1
• MESH:C567430
• MIM:612067
• ORDO:210571

Ontology

Human Disease   ( DOID:0090048 )