congenital muscular dystrophy-dystroglycanopathy type A8 (Q66084927)
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A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.
- MDDGA8
- Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | congenital muscular dystrophy-dystroglycanopathy type A8 |
A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. |
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Identifiers
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1 reference