The Undiagnosed Hackathon was conceptualized and designed by H.C., M. Cederroth, A.N., and A.M.D.V. Biological samples and phenotype data were collected by various authors, processed and analyzed under the coordination of A.M.D.V. et al. All authors participated in data analysis and interpretation, with A.M.D.V. et al. drafting the manuscript. A.N., H.C., and M. Cederroth secured funding.