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Walker-Warburg syndrome
Summary
- Synonym
-
- HARD syndrome
- cerebroocular dysplasia-muscular dystrophy 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.
- Super Class
- autosomal recessive disease congenital muscular dystrophy
External Links
- Disease Ontology
- DOID:0050560
- Mondo Disease Ontology
- MeSH
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75072 | Ribitol-5-phosphate transferase FKTN | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P02463 | Collagen alpha-1(IV) chain |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9VTK2 | Protein O-mannosyltransferase 1 | |
| Q9W5D4 | Protein O-mannosyl-transferase 2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| L7YAI7 | Beta-1,4-glucuronyltransferase 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P46971 | Dolichyl-phosphate-mannose--protein mannosyltransferase 4 |
