Fig. 4.

Spectrum of reported neurodevelopmental and neurological phenotypes of 127 individuals with de novo LoF or missense variants in KMT2A. Frequencies of neurodevelopmental and neurological phenotypes reported in publications are shown. Note that absence of phenotype from a publication either means the phenotype was not assessed or there was a negative finding, which we could not distinguish in most publications. LoF: loss-of-function