Au-Kline Syndrome Natural History Study
Summary
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.
Eligibility
Eligible ages: 0 to 90
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.
Participate
Fill out the following form if you want to participate in this research
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Additional information
Contact information
Billie Au pybau@ucalgary.ca
Principal investigator:
Ping-Yee Au
Clinical trial:
No
REB-ID:
REB20-0665