WormBase Tree Display for DO_term: DOID:0050560
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| DOID:0050560 | Name | Walker-Warburg syndrome | |
|---|---|---|---|
| Status | Valid | ||
| 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. | ||
| Comment | OMIM mapping confirmed by DO. | ||
| Synonym | Exact | HARD syndrome | |
| cerebroocular dysplasia-muscular dystrophy syndrome | |||
| Parent | Is_a | DOID:0050557 | |
| DOID:0050737 | |||
| Attribute_of | Gene_by_orthology | WBGene00011554 | |
| WBGene00020307 | |||
| WBGene00020924 | |||
| WBGene00020927 | |||
| WBGene00021249 |
