Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation

Abstract

Ohdo syndrome–Maat-Kievit-Brunner (OSMKB) type is an X-linked recessive disorder, a subtype of blepharophimosis-intellectual disability syndromes caused by mutations in the mediator complex subunit 12 (MED12) gene. Here we report a familial OSMKB type with two affected siblings and mutation in MED12 gene.

Keywords

Ohdo syndrome–Maat-Kievit-Brunner type - blepharophimosis - intellectual disability - congenital heart disease - high-place winged scapula

Funding

This work was supported and funded by the project of National Institutes of Health titled “Genetic Diagnosis of Heritable Neurodevelopmental Disorders in India: Investigating the Use of Whole Exome Sequencing and Genetic Counseling to Address the High Burden of Neurodevelopmental Disorders” (1R21NS094047–01).

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