P129: Clinical trial–ready outcomes in MED13L syndrome: Baseline results from a prospective natural history study*

Genetics in Medicine Open 2026 Open access

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Authors: Muhammed Cagri Bayraktutan, Abigail Sveden, Jillian O'Toole, Jada Cameron, Meg Quinn, Zoë Frazier, Rachel Heilmann, Abigail Donaghue, Brian Rozumny, Celia Tam, Ellen M. Hanson, Sara K. Trowbridge
+1 more Maya Chopra
DOI: 10.1016/j.gimo.2026.103623
Cited by: 0

Abstract

Mediator complex subunit 13-like (MED13L) is part of the mediator complex that regulates transcription through RNA polymerase II and mediates the release of cyclin C from the nucleus. Heterozygous loss-of-function variants in MED13L are responsible for MED13L syndrome, characterized by intellectual disability, developmental delays, behavioral concerns, and structural anomalies. To date, the syndrome has been characterized through cross-sectional case series and case reports with indirect phenotypic ascertainment.

Fields of Study & Subjects

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103623–103623
Publication date
1 January 2026
Language
EN