Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Definition
Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.
Also known as B3GALNT2 muscular dystrophy-dystroglycanopathy, type A, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2 — per MONDO