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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