Mutations in TBC1D24 cause a wide variety of conditions, from isolated deafness or seizures (such as myoclonic epilepsy), to DOORS syndrome, a condition with deafness, abnormal nails and digits, intellectual disability and seizures.

This website provides links to further information on TBC1D24 for clinicians, scientists, and families.

Here is the link for the TBC1D24 family foundation:

If you want to participate in one of our research projects, please contact us.