Figure 3.

Developmental Milestones in Individuals with Variants in KMT2E

Most children with protein-truncating variants acquire first words and walking by 24 months of age, though a minority are more significantly delayed. Only individual 12, who experienced a cardiac arrest and injury, did not acquire these skills. A majority of individuals with a microdeletion had significant delay in speech development but walked at a similar time to individuals with protein-truncating variants. Of those with missense variants, those with severe infantile epilepsy had significant delays.