Figure 1. Graphical heatmaps of the patient´s photos. Photos were taken at A) the age of fifteen and B) at the age of eight. Image comparison shows a high similarity between the descriptor of the patient´s photo and the composite image of Koolen-de Vries syndrome. The heatmaps illustrate the facial elements that informed the DeepGestalt algorithm in this patient. For calculation of the Feature score the following HPO-terms were used: generalized muscle weakness; nevus; intellectual disability, moderate; poor fine motor coordination; tonsillitis; agenesis of canine; abnormal morphology of the hippocampus; decreased serum iron.