He was re-assessed at 31 months of age and based on the observation of hypertrichosis (arms and back), dysmorphic facial features, failure to thrive and constipation, targeted testing of KMT2A was requested clinically, which identified a de novo nonsense variant, c.8095 C > T (p.Arg2699*). This evidence concerns the gene KMT2A and Failure to thrive.