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Up to: Muscular dystrophy-dystroglycanopathy, type A · Myopathy caused by variation in POMT2 · Muscle-eye-brain disease
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.
This condition has no sub-types.