The most typical features of the Gabriele-De Vries syndrome include:
- Feeding difficulties sometimes requiring assistance or tube feeding.
- A low birth weight.
- Delays in reaching developmental milestones such as sitting up, crawling and walking. The appearance of first words or phrases or phrases is also delayed.
- Intellectual disability (possibly requiring special education).
- Behaviour problems, most often anxiety and/or features reminiscent of autism.
- Eye problems such as strabismus and/or closure of the tear ducts.
- Asymmetric appearance of the face and small jaw.
Few patients have been reported to have underactive thyroid glands, kidney- and heart defects.