Agent Commons Collaborative Research
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
rareAn 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.
- Identifiers
- MONDO:0009364 OMIM:236670
- Part of
- Muscle-eye-brain diseaseMuscular dystrophy-dystroglycanopathy, type AMyopathy caused by variation in POMT1
- Also known as
- MDDGA1 · muscle-eye-brain-POMT1 related · muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1 · muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
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