While no likely causal variant was identified in five of these cases, RNA-Seq analysis of blood-derived RNA on patient 15DG2234 (microcephaly, abnormality of the cerebral white matter and intellectual disability) highlighted KCTD3 as the only likely candidate within the candidate autozygome (139 candidates were highlighted prior to the autozygome filter). Here, KCTD3 is linked to microcephaly.