Disorders

X-Linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance

Synonym(s): MRX60, X-Linked Mental Retardation 60

Gene	Locus	Protein
OPHN1	Xq12	Oligophrenin-1

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA

^* 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.