TBC1D24 is associated with several disorders [58], including infantile epileptic encephalopathy, myoclonic epilepsy, DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), and NSHL (DFNB86, MIM 614617), and we identified a reported variant, c.641G>A (p.R214H) [47], and a novel variant, c.1268del (p.G423AfsX24), in a compound heterozygous individual. The gene discussed is TBC1D24; the disease is DOORS syndrome.