Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

MONDO:0013154

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.

Also known as: MDDGA2, Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related, muscle-eye-brain-POMT2 related, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2

5 clinical trials for this condition and its sub-types, 0 tagged with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 itself.

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↑ Muscular dystrophy-dystroglycanopathy, type A (1) ↑ Myopathy caused by variation in POMT2 (1) ↑ Muscle-eye-brain disease (0)

Including sub-types (5) Tagged with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 (0)

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