Condition: Young Simpson syndrome


rs1057516033 in KAT6B gene and Young Simpson syndrome PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs199470482 in KAT6B;DUPD1 gene and Young Simpson syndrome PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.