Disorders

Corneal Endothelial Dystrophy 2, Autosomal Recessive

Synonym(s): CHED2, Congenital Hereditary Endothelial Dystrophy of Cornea, Corneal Dystrophy, Congenital Hereditary Endothelial, Maumenee Corneal Dystrophy

OMIM

Gene	Locus	Protein
SLC4A11	20p13	Sodium bicarbonate transporter-like protein 11

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region

^* 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.