Dominant gain-of-function DIAPH1 variants cause sensorineural deafness and macrothrombocytopenia (DFNA1) [6–8], while homozygous DIAPH1 loss leads to seizures, cortical blindness, and microcephaly syndrome (SCBMS). Here, DIAPH1 is linked to autosomal dominant nonsyndromic hearing loss 1.