Disorders

Foveal Hypoplasia and Presenile Cataract Syndrome

Gene	Locus	Protein
PAX6	11p13	Paired box protein Pax-6

Laboratory	Test Method	Prenatal	Carrier *
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, 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.