RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt.

Abstract excerpt

De novo heterozygous variants in RNU4-2, a component of the major spliceosome, were recently found to cause a novel neurodevelopmental disorder. Preliminary evidence suggests that this newly discovered syndrome is one of the most common monogenic causes of neurodevelopmental disorders. It is characterised by developmental delay and intellectual disability, microcephaly, short stature and hypotonia. However, much...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child, Preschool
• Share to Developmental Disabilities