DIAPH1 and Thrombocytopenia: Since identifying DIAPH1 as the first causative gene of ADNSHL in a large Costa Rican family in 1997, among the reported ones, only a few mutations in this gene have been reported with DFNA1 without thrombocytopenia, and most of them have additional symptoms (DFNA1 + Thrombocytopenia).8