Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants

Facial features of six novel patients with de novo LoF or missense variants in KMT2A. a Patient 1 at 10 years; b patient 2 at 9 years; c patient 3 at 13 years; d Patient 4 at 25 years; e patient 5 at 5 years; f patient 6 at 1 year of age. Characteristic facial features noted in these patients include: thick and/or high arched eyebrows, long eyelashes, hypertelorism, downslanting palpebral fissures and a broad nasal tip. Written consent was obtained from all patients for open access publication of the photographs. LoF: loss-of-functio