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HNRNPD-Related Neurodevelopmental Disorder

To date, over 30 individuals with probably HNRNPD-RNDD have been identified. HNRNPD in relation to a neurodevelopmental disorder has not been formally published, thus it is a candidate disorder. 

 

Most HNRNPD variants are loss-of-function, suggesting that HNRNPD-RNDD is caused by haploinsufficiency (only have the amount of the gene/protein is not sufficient for typical function). 

 

The average age of those idenitifed with HNRNPD-RNDD is 9 years old. This is important, as we don't necessarily know how they develop over time. There is not a significant difference of number of males and females affected.
 

Clinical Features

2015-2017

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2011-2014

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2007-2010

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The Scientists Working on HNRNPC

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Publications on HNRNPC

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Disclaimer: The information provided on this website is not intended to diagnose or treat a disease or disorder. Please direct any medical-related questions to your physician. The HNRNP Family Foundation is not responsible for any errors or omissions on this website.

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