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dystonia 16
Summary
- 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.
- Super Class
- autosomal recessive disease multifocal dystonia
External Links
- Disease Ontology
- DOID:0090048
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51649 | Succinate-semialdehyde dehydrogenase, mitochondrial |
