Disorders

Syndromic Microphthalmia 2

Synonym(s): MCOPS2, Oculofaciocardiodental Syndrome, OFCD Syndrome

Gene	Locus	Protein
BCOR	Xp11.4

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.