Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

MONDO:0009667

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.

Also known as: muscle-eye-brain-POMGNT1 related, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3, MDDGA3, Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3

5 clinical trials for this condition and its sub-types, 0 tagged with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 itself.

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↑ Muscular dystrophy-dystroglycanopathy, type A (1) ↑ Myopathy caused by variation in POMGNT1 (1) ↑ Muscle-eye-brain disease (0)

Including sub-types (5) Tagged with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 (0)

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