Finally, a recent report from the UDN and MOSC has linked loss-of-function truncation mutations in the Interferon Regulatory Factor 2 Binding Protein Like (IRF2BPL) gene with a syndrome involving severe neurodevelopmental regression, hypotonia, ataxia, seizures, and lack of coordination [42]. The gene discussed is IRF2BPL; the disease is cerebellar ataxia.