DIAPH1 and progressive microcephaly-seizures-cortical blindness-developmental delay syndrome: 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).