Version: 8.0.0
Date: Tue Jan 28 2025
dystonia 16
DOID:0090048
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

dystonia 16

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.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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