congenital muscular dystrophy-dystroglycanopathy type A10 (Q66084935)
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A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.
- Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
- MDDGA10
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | congenital muscular dystrophy-dystroglycanopathy type A10 |
A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2. |
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Identifiers
1 reference
1 reference