rs1057519389 in
EBF3 gene and
Torticollis
PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
rs1064795104 in
EXOC6B gene and
Torticollis
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.