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congenital muscular dystrophy-dystroglycanopathy type A11
Summary
- Synonym
-
- MDDGA11
- Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111230
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 431874 | b3galnt2.L | beta-1,3-N-acetylgalactosaminyltransferase 2 L homeolog | Xenopus laevis (African clawed frog) | |
| 496641 | b3galnt2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Xenopus tropicalis (tropical clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NCR0 | UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000369 | Low-set ears |
| HP:0000411 | Protruding ear |
| HP:0000482 | Microcornea |
| HP:0000528 | Anophthalmia |
| HP:0000541 | Retinal detachment |
| HP:0000556 | Retinal dystrophy |
| HP:0000568 | Microphthalmia |
| HP:0000587 | Abnormal optic nerve morphology |
| HP:0000612 | Iris coloboma |
| HP:0001249 | Intellectual disability |
