label: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4
label_lc: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type a, 4
description: "An autosomal recessive muscular dystrophy caused by mutations in the gene encoding fukutin (FKTN).  It is associated with characteristic brain and eye malformations, seizures, and mental retardation."