label: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
label_lc: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a1
description: "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death."