Condition: KABUKI SYNDROME 2
rs1135401809 in
KDM6A gene and
KABUKI SYNDROME 2
PMID 23076834 2013 KDM6A point mutations cause Kabuki syndrome.
PMID 27302555 2016 Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
PMID 25972376 2015 Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.