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.


Currently recruiting participants: Yes

Eligible gender: Male, Female, Transgender, Other

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.


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Method of contact

Additional information

Contact information

Billie Au

Principal investigator:

Ping-Yee Au

Clinical trial: