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Metadata
ID DOID:0090048
Name 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.
https://www.ncbi.nlm.nih.gov/pubmed/28283962, https://www.ncbi.nlm.nih.gov/pubmed/29279192, https://www.omim.org/entry/612067
Xrefs

GARD:10539

ICD10CM:G24.1

OMIM:612067

ORDO:210571

Parent Relationships

is_a multifocal dystonia

is_a autosomal recessive disease

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