| Metadata | |
|---|---|
| ID | DOID:0050560 |
| Name | Walker-Warburg syndrome |
| Definition | A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome |
| Xrefs | |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Synonyms |
cerebroocular dysplasia-muscular dystrophy syndrome [EXACT] HARD syndrome [EXACT] |
| Parent Relationships |