Otofaciocervical Syndrome 1 (OTFCS)

Otofaciocervical Syndrome 1, also known as otofaciocervical syndrome, is related to branchiootorenal syndrome 1 and branchiootic syndrome. An important gene associated with Otofaciocervical Syndrome 1 is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). Affiliated tissues include thymus, and related phenotypes are intellectual disability and hyperreflexia.