label: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
label_lc: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a2
description: An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.