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Up to: Muscular dystrophy-dystroglycanopathy, type A · Myopathy caused by variation in POMT1 · Muscle-eye-brain disease
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.
This condition has no sub-types.