Research collaboration

We aim to study patients with disease causing variants in NEXMIF in order to improve our understanding of the phenotype and genotype of this disorder. We hope to include more basic research e.g. functional analysis as part of our study.

Our study is open to all patients with pathogenic/likely pathogenic NEXMIF variants for whom clinical information is available. We are also very interested in patients with missense or splice site variants of unknown significance that are either de novo or maternally inherited.