label: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 2
label_lc: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type a, 2
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."