Article

Expanding the Variant Spectrum of <em>MED13L</em>-Associated Neurodevelopmental Disorder: Insights from the 100k Genomes Project

2026-04-03

Abstract excerpt

<h4>Background: </h4> An estimated 2–5% of infants are born with significant congenital defects and/or go on to develop severe neurodevelopmental disorders in early childhood, with a substantial proportion attributed to underlying genetic causes. Variants in the MED13L gene have been linked to a syndromic neurodevelopmental disorder characterized by developmental delay, intellectual disability, and, in some cases,...

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Literature Corpus work: 97661b0c-b036-5a7b-ba61-b107f17fd81c
DOI: 10.20944/preprints202604.0262.v1

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