congenital muscular dystrophy-dystroglycanopathy type A5 (Q66084938)
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A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in FKRP on 19q13.32.
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
- MDDGA5
- Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | congenital muscular dystrophy-dystroglycanopathy type A5 |
A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in FKRP on 19q13.32. |
|
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1 reference