Agent Commons Collaborative Research
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
rareAny muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.
- Identifiers
- MONDO:0013904 OMIM:614830
- Part of
- Congenital muscular dystrophy caused by variation in POMGNT2Muscular dystrophy-dystroglycanopathy, type A
- Also known as
- MDDGA8 · muscle-eye-brain-POMGNT2 related · muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 · muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2 · POMGNT2 muscular dystrophy-dystroglycanopathy, type A
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