A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED12

Abstract

MED12 is a component of the large multiprotein Mediator complex. MED12 variants have been linked to three different X-linked intellectual disability (ID) syndromes, including Ohdo syndrome of the Maat-Kievit-Brunner phenotype (OSMKB), Opitz-Kaveggia (FG) syndrome, and Lujan-Fryns syndrome (LFS). This article is protected by copyright. All rights reserved.