AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency

In 2012 Acta Paediatrica published our paper, which reported a possible new form of cerebral folate deficiency, with microcephaly, growth delay, severe intellectual disability and compulsive self-harm behaviour (1). Our patient has now been included in the Telethon Undiagnosed Diseases Program, which aims at providing diagnoses for paediatric patients with an unnamed genetic disease. This article is protected by copyright. All rights reserved.