DIAPH1 and progressive microcephaly-seizures-cortical blindness-developmental delay syndrome: For instance, biallelic mutations in DIAPH1 cause seizures, cortical blindness, and microcephaly syndrome (SCBMS, MIM: #616632), while chromosomal rearrangements and copy number variation involving the DIAPH2 gene have been recurrently found in patients with premature ovarian insufficiency (also known as POF2A, MIM: #300511), and DIAPH3 mutations have been associated with autism spectrum disorders.