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). The gene discussed is TBC1D24; the disease is Chiari malformation.