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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:0001324 | Muscle weakness |
| HP:0001328 | Specific learning disability |
| HP:0001331 | Absent septum pellucidum |
| HP:0001339 | Lissencephaly |
| HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature |
| HP:0002119 | Ventriculomegaly |
| HP:0002126 | Polymicrogyria |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0002334 | Abnormal cerebellar vermis morphology |
| HP:0002536 | Abnormal cortical gyration |
