Clinical Characteristics

The most typical features of the disorder caused by CAMK2B mutations include:

  • delays in reaching developmental milestones such as sitting up, crawling and walking. The appearance of first words or phrases or phrases is frequently delayed;
  • intellectual disability (possibly requiring special education);
  • behaviour problems, namely irritability, low tolerance to frustration, hyperactivity, anxiety, aggressiveness or autistic traits;
  • epilepsy.

Other common problems could include:

  • hypotonia;
  • facial features (decreased distance between the eyes, down-slanting of the opening between the eye lids, and skin fold of the upper eyelid);
  • visual problems;
  • gastro-intestinal issues (feeding difficulties, reflux and constipation);
  • breathing irregularities;
  • scoliosis.