We suggest that individuals without deafness and seizures but with the other features should still be screened for TBC1D24 mutations because we are only beginning to understand the genetic causation of DOORS syndrome: the discovery of TBC1D24 mutations in a patient with an appropriate phenotype confirms the diagnosis of DOORS syndrome, but more cases need to be studied to establish the full clinical use of TBC1D24 mutation testing. This evidence concerns the gene TBC1D24 and deafness-onychodystrophy syndrome.