De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder with a phenotypic spectrum of mild to severe developmental delay, feeding difficulties, short stature, microcephaly, and recurrent facial features. Functional studies in human cells and Drosophila, as well as aberrant methylation profiles, support the gene-disease association.