All authors contributed to the study conception and design. Data collection and analysis were performed by Andrea Sitek, Anna Ligezka, Sergio Chiarella, Eva Morava, and Rohit Budhraja. The first draft of the manuscript was written by Andrea Sitek and Anna Ligezka. All authors read and approved the final manuscript.

The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.

The patient was evaluated through the Frontier in CDG Consortium (FCDGC) natural history study (IRB: 19–005187; https://clinicaltrials.gov/ct2/show/NCT04199000?cond=CDG&draw=2&rank=4).

The authors declare no competing interests.