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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:0002352 | Leukoencephalopathy |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0007033 | Cerebellar dysplasia |
| HP:0002350 | Cerebellar cyst |
| HP:0011463 | Childhood onset |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0003593 | Infantile onset |
