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EIF2AK2

eukaryotic translation initiation factor 2 alpha kinase 2

HCNC Approved Symbol
EIF2AK2 (HGNC:9437)
Genomic Coordinates
2:37,099,210 - 37,156,980 (2p22.2)
Synonyms
PKR, PPP1R83, PRKR
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Dystonia 33
619687AD; AR
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
618877AD

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the EIF2AK2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results