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Human Disease

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
Ontology
Human Disease   ( DOID:0090048 )
Relationships
is a type of
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Genes Involved
Zebrafish Models