| Metadata | |
|---|---|
| ID | DOID:0111241 |
| Name | congenital muscular dystrophy-dystroglycanopathy type A5 |
| Definition | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32. https://www.ncbi.nlm.nih.gov/pubmed/15121789 |
| Xrefs | |
| Synonyms |
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 [EXACT] MDDGA5 [EXACT] Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related [EXACT] |
| Parent Relationships |
is_a congenital muscular dystrophy-dystroglycanopathy type A |