congenital muscular dystrophy-dystroglycanopathy type A6 (Q66084939)
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A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in LARGE on 22q12.3.
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6
- Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
- MDDGA6
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | congenital muscular dystrophy-dystroglycanopathy type A6 |
A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in LARGE on 22q12.3. |
|
Statements
1 reference
C126743
0 references
Identifiers
1 reference
1 reference