| Metadata | |
|---|---|
| ID | DOID:0111229 |
| Name | congenital muscular dystrophy-dystroglycanopathy type A |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/23453667 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital muscular alpha-dystroglycanopathy with brain and eye anomalies [EXACT] klissencephaly type 2 with muscular and ocular involvement [EXACT] MDDGA [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth has symptom some muscle weakness |