An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. The disease is muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 (MONDO_0009667). Also known as: muscle-eye-brain-POMGNT1 related, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3.