rs1554333853 in
CDK13 gene and
Wide spaced nipples
PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
rs1064795104 in
EXOC6B gene and
Wide spaced nipples
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.
rs786200952 in
KAT6A gene and
Wide spaced nipples
PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.