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Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
rareAn 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.
- Identifiers
- MONDO:0009667 OMIM:253280
- Part of
- Muscle-eye-brain diseaseMuscular dystrophy-dystroglycanopathy, type AMyopathy caused by variation in POMGNT1
- Also known as
- MDDGA3 · muscle-eye-brain-POMGNT1 related · muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3 · muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
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