TNPO2

The Target-TNPO2 is an international, multicenter observational registry designed to collect comprehensive clinical, genetic, neurodevelopmental, and longitudinal data from individuals with pathogenic or likely pathogenic variants in the TNPO2 gene. This aids to improve the knowledge and clinical progression on TNPO2-associated disorders. The investigators further aim to provide new insides into the pathomechanism of TNPO2 variants using blood samples.