CAMK2A

Professionals

Clinical features and inheritance

Mutations in the CAMK2A gene cause an autosomal dominant disorder characterized mainly by neurodevelopmental issues, including mild to severe intellectual disability, language impairment and behavioural anomalies. All mutations found so far were de novo.

 

Prevalence

The disorder is rare, as only 10 mutations, all de novo, were identified among about 20,000 trios in the initial study.