WormBase Tree Display for DO_term: DOID:0111229
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| DOID:0111229 | Name | congenital muscular dystrophy-dystroglycanopathy type A | |
|---|---|---|---|
| Status | Valid | ||
| Definition | A congenital 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. | ||
| Synonym | Exact | MDDGA | |
| congenital muscular alpha-dystroglycanopathy with brain and eye anomalies | |||
| klissencephaly type 2 with muscular and ocular involvement | |||
| Parent | Is_a | DOID:0050737 | |
| DOID:0112374 | |||
| Child | Is (14) |
