The primary clinical feature consists of cognitive impairment ranging from borderline to moderate ID.
Other recurrently observed features include various behavioral problems such as anxiety and autistic features, intrauterine growth retardation, feeding problems, eye abnormalities, and movement abnormalities.
In addition, a variety of congenital abnormalities can be observed in the Gabriele- De Vries syndrome, including oesophageal atresia, cleft palate, craniosynostosis, hydronephrosis, hypothyroidism and Ebstein’s anomaly, in only one or two individuals each .
Overlapping craniofacial dysmorphisms include facial asymmetry with a broad forehead, fullness of the upper eyelids, and an indentation of the upper lip that had a Gingko leaf-like shape.