Condition: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES
rs864309714
in
KDM1A
gene and
CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES
PMID 26656649
2016 Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.
PMID 23020937
2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 24838796
2014 De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.