Rare diseases affect one in every ten people. Many of these diseases are characterized by observable traits of the affected individuals - a ‘phenotype’. In many cases, this phenotype is especially noticeable in the facial features of the patients, Down syndrome for example. But most such conditions have subtle facial patterns and are harder to diagnose. FDNA has developed a unique, Computer Vision based solution called ‘Face2Gene’ - an AI engine of suggested syndromes and genes based on facial images of the patient. FDNA will present its solution, challenges and research aspects of the phenotype analysis.