A third canonical splice site variant was a de novo splice donor variant (c.2345 + 1G > A), predicted to be pathogenic, in the known microcephaly-associated gene, WDFY3 (OMIM #617520) [101, 102] in a foetus with congenital brain anomalies including small cerebellum seen on a pre-natal scan. Here, WDFY3 is linked to microcephaly.