Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Definition
Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene.
Also known as ISPD muscular dystrophy-dystroglycanopathy, type A, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD, Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related — per MONDO