Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

Significant improvements in automated image analysis have been achieved in recent years and tools are now increasingly being used in computer‐assisted syndromology. However, the ability to recognize a syndromic facial gestalt might depend on the syndrome and may also be confounded by severity of phenotype, size of available training sets, ethnicity, age, and sex. Therefore, benchmarking and comparing the performance of deep‐learned...