Compound heterozygosity for human p.His336Glnfs*12 and the 1206 + 5G > A exon 5 donor splice site variant of TBC1D24 is associated with DOORS [19], whereas compound heterozygosity for p.His336Glnfs*12 and perhaps the less disabling p.Asp11Gly single amino acid substitution is associated with early-infantile epileptic encephalopathy 16 (EIEE16) with hearing loss [20]. The gene discussed is TBC1D24; the disease is infantile epileptic encephalopathy.