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.