congenital muscular dystrophy-dystroglycanopathy type A12 (Q66084931)
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A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMK on 8p11.21.
- MDDGA12
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
- Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | congenital muscular dystrophy-dystroglycanopathy type A12 |
A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMK on 8p11.21. |
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Identifiers
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1 reference