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

Currently recruiting participants: Yes

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

Method of contact

Collection of personal information
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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