DIAPH1 and Cerebral visual impairment: However, homozygous loss of DIAPH1 (the gene that encodes DIAPH1/mDIA1), which was initially reported to cause is causing seizures, cortical blindness, and microcephaly syndrome in humans (Ercan-Sencicek et al., 2015), has recently been reported to be associated with lymphocyte maturation and function impairments, as well as increased risk of B cell lymphoma (Kaustio et al., 2021).