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Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
rareAn autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.
- Identifiers
- MONDO:0013154 OMIM:613150
- Part of
- Muscle-eye-brain diseaseMuscular dystrophy-dystroglycanopathy, type AMyopathy caused by variation in POMT2
- Also known as
- MDDGA2 · 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 · Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related
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