Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Definition
Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.
Also known as muscle-eye-brain-POMGNT2 related, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8, muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2, POMGNT2 muscular dystrophy-dystroglycanopathy, type A — per MONDO