The ZFHX4-associated syndrome is characterized by (sometimes subtle) facial appearance, variable degrees of developmental delay, learning difficulties and behavioral difficulties. Other features seen in some affected individuals include low muscle tone (hypotonia), visual problems, cleft lip or palate and skeletal abnormalities.

ZFHX4 variants are inherited in an autosomal dominant matter. Almost all pathogenic variants are due to a de novo change. However, some inherited deletions encompassing ZFHX4 have been found in mildly affected individuals.