Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

Jean Tori Pantel   ^{1, 2 *} ;   Nurulhuda Hajjir   ^{1, 3 *} ;   Magdalena Danyel   ^{1, 4} ;   Jonas Elsner   ¹ ;   Angela Teresa Abad-Perez   ¹ ;   Peter Hansen   ^{1, 5} , PhD ;   Stefan Mundlos   ^{1, 6} , Prof Dr ;   Malte Spielmann   ^{6, 7} , Prof Dr ;   Denise Horn   ¹ , Prof Dr ;   Claus-Eric Ott   ¹ , MD ;   Martin Atta Mensah   ^{1, 8} , MD

¹ Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany

² Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany

³ Klinik für Pädiatrie mit Schwerpunkt Gastroenterologie, Nephrologie und Stoffwechselmedizin, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany

⁴ Berlin Center for Rare Diseases, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany

⁵ The Jackson Laboratory for Genomic Medicine, Farmington, CT, United States

⁶ RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany

⁷ Institute of Human Genetics, University of Lübeck, Lübeck, Germany

⁸ Berlin Institute of Health (BIH), Berlin, Germany

*these authors contributed equally