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HNRNPD-Related Neurodevelopmental Disorder

To date (early 2023), over 20 individuals with probably HNRNPD-RNDD have been identified.

 

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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