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congenital muscular dystrophy-dystroglycanopathy type A8
Summary
- Synonym
-
- MDDGA8
- Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111231
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 444520 | pomgnt2.L | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) L homeolog | Xenopus laevis (African clawed frog) | |
| 496628 | pomgnt2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Xenopus tropicalis (tropical clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NAT1 | Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001284 | Areflexia |
| HP:0001302 | Pachygyria |
| HP:0001305 | Dandy-Walker malformation |
| HP:0001321 | Cerebellar hypoplasia |
