congenital muscular dystrophy-dystroglycanopathy type A (Q66084925)
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muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has material basis in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing
- MDDGA
- congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
- klissencephaly type 2 with muscular and ocular involvement
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | congenital muscular dystrophy-dystroglycanopathy type A |
muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has material basis in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing |
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