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Au-Kline Syndrome Natural History Study

This study aims to study the health and developmental outcomes of Au-Kline syndrome. Au-Kline syndrome is a genetic condition associated with intellectual disability and malformations. It is caused by mutation in the gene HNRNPK.

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Participation Requirements

  • Sex:

    Male, Female, Intersex

  • Eligible Ages:

    0 to 90

Participation Criteria

Inclusion Criteria:
Participants must have a confirmed diagnosis of Au-Kline syndrome, or a genetic change in the gene HNRNPK.
Exclusion Criteria:
Participants who do not have Au-Kline syndrome or a genetic change in the gene HNRNPK are not eligible.

Study Location

University of Calgary
University of Calgary
Calgary, Alberta
Canada

Contact Study Team

Study Sponsored By
University of Calgary
Participants Required
More Information
Study ID: REB20-0665