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*). The gene discussed is KMT2A; the disease is hypertrichosis.