PSMC3

Clinical Characteristics

The most typical features of the disorder caused by PSMC3 mutations include:
•    delays in reaching developmental milestones, more especially (i) speech and language, which are delayed or impaired in all patients diagnosed so far; but also (ii) sitting up, crawling and walking;
•    intellectual disability (possibly requiring special education);
•    facial dysmorphic features (tall or broad forehead, thin upper lip with down-turned corners of mouth, abnormal palate, epicanthal folds, and orofacial clefts);
•    brain MRI abnormalities;
•    cardiac, renal, skeletal, and genital malformations;
•    behavioral problems, namely autism spectrum disorder, irritability, low tolerance to frustration, tantrums, and bipolar disorder;
•    hypotonia.

Other common problems could include:
•    gastrointestinal issues (feeding difficulties);
•    growth failure (underweight, short stature);
•    hearing loss
•    microcephaly
•    Seizures
•    ophtalmological concerns (strabismus);
•    tumors (craniopharyngioma, neuroblastoma)