Metadata | |
---|---|
ID | DOID:0111232 |
Name | congenital muscular dystrophy-dystroglycanopathy type A9 |
Definition | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31. https://www.ncbi.nlm.nih.gov/pubmed/24052401 |
Xrefs | |
Synonyms |
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9 [EXACT] MDDGA9 [EXACT] Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related [EXACT] |
Parent Relationships |
is_a congenital muscular dystrophy-dystroglycanopathy type A |