DIAPH1 and progressive microcephaly-seizures-cortical blindness-developmental delay syndrome: Dominant gain‐of‐function DIAPH1 variants cause sensorineural deafness and macrothrombocytopenia (DFNA1) (Stritt et al. 2016; Ueyama et al. 2016), while homozygous DIAPH1 loss of function leads to seizures, cortical blindness, and microcephaly syndrome (SCBMS) (#MIM: 616632) (Al‐Maawali et al. 2016; Ganaha et al. 2017; Kaustio et al. 2021).