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.