DOORS syndrome (also known as DOOR syndrome) is a condition with deafness, abnormal nails and digits, intellectual disability and seizures. Approximately half of the patients with these five features have mutations in the geneĀ TBC1D24. Some children also have intermittently elevated 2-oxoglutaric aciduria.

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

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