Condition: Duane Retraction Syndrome, Type 2


rs121912792 in CHN1 gene and Duane Retraction Syndrome, Type 2 PMID 18653847 2008 Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.

rs879255275 in MAFB gene and Duane Retraction Syndrome, Type 2 PMID 27181683 2016 Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.