congenital muscular dystrophy-dystroglycanopathy A7 (Q66084930)
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A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.
- MDDGA7
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7
- Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
Language | Label | Description | Also known as |
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English | congenital muscular dystrophy-dystroglycanopathy A7 |
A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1. |
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Identifiers
1 reference
1 reference