YY1

Clinical Characteristics

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.