The most typical features of the disorder caused by PSMD12 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);
- cardiac, renal, skeletal, and genital malformations;
- behavioral problems, namely irritability, low tolerance to frustration, hyperactivity, anxiety, aggressiveness or autistic traits;
- hypotonia, epilepsy.
Other common problems could include:
- facial features (abnormal outer ear, abnormal posterior positioning of the maxilla or mandible, decreased distance between the eyes);
- visual problems;
- gastrointestinal issues (feeding difficulties) possibly associated with growth failure.