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Up to: Muscular dystrophy-dystroglycanopathy, type A · Myopathy caused by variation in POMGNT1 · Muscle-eye-brain disease
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
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.
This condition has no sub-types.