Clinical Characteristics


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.