MBD5 haploinsufficiency is associated with typical manifestations of 2q23.1 microdeletion syndrome [OMIM 611472] (Talkowski et al., 2011) which is characterized by variable clinical presentations including microcephaly, intellectual disability, seizures, mild dysmorphic features, behavioral issues, and autistic‐like features. This evidence concerns the gene MBD5 and syndrome caused by partial chromosomal deletion.