In the individuals without TBC1D24 mutations, eight did not have seizures and three did not have deafness (including one without seizures or deafness) and some individuals had additional malformations (eg, Arnold-Chiari malformation), which suggests that our cohort might include some individuals with disorders that overlap with but are different from DOORS syndrome (table 2). This evidence concerns the gene TBC1D24 and deafness-onychodystrophy syndrome.