ACTB and coloboma: In conclusion, this report presents a mildly affected case of BWCFF associated with the heterozygous p.Pro70Leu variant of ACTB. The phenotype in our patient—including coloboma, mild developmental delay and the absence of lissencephaly—closely resembles that observed in previously reported cases in the different population with the same variant, suggesting a genotype–phenotype correlation in this syndrome.