Expansion and further delineation of the phenotype of SETD5

The SET domain containing 5 gene (SETD5) encodes the SET domain-containing protein 5 and has been reported to be associated with intellectual disability (ID), language delay, and dysmorphic features. Previously reported individuals with SETD5 alterations have been described with psychiatric/behavioral anomalies such as autism (ASD) and stererotypic behaviors, gastrointestinal abnormalities. Craniofacial abnormalities such as low posterior hairline, nasal abnormalities, upslanting/ downslanting palpebral fissures, long and smooth philtrum, thin upper lip, and ear abnormalities have also been described.