Clinical features depend predominantly on the type, level of mosaicism and tissue distribution of the PIK3CA mutation. Features can include:
- Overgrowth (due to increased cell size or number; features largely depend on tissues/organs involved)
- Dysplasia (particularly of the brain, causing epilepsy)
- Vascular or lymphatic malformations
- Neurological issues (epilepsy, hypotonia, intellectual disability)
Individuals with PIK3CA mutations are also known to be at risk for the following medical issues:
- Hypoglycemia
- Growth hormone deficiency
- Thrombosis
- Neurosurgical issues: e.g. hydrocephalus and cerebellar tonsillar ectopia