In keeping with this DIAPH1 gene variant being the underlying cause of disease, a small number of individuals with neurodevelopmental deficits, primarily characterised by the presence of microcephaly, short stature, seizures, intellectual disability and visual impairment have been previously identified with biallelic, loss-of-function mutations in DIAPH110–14. The gene discussed is DIAPH1; the disease is Visual impairment.