congenital muscular dystrophy-dystroglycanopathy type A1 (Q66084933)
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A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
- MDDGA1
- Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | congenital muscular dystrophy-dystroglycanopathy type A1 |
A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. |
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1 reference