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congenital muscular dystrophy-dystroglycanopathy type A3
Summary
- Synonym
-
- MDDGA3
- Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111236
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 414570 | pomgnt1.L | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) L homeolog | Xenopus laevis (African clawed frog) | |
| 495292 | pomgnt1.S | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) S homeolog | Xenopus laevis (African clawed frog) | |
| 100158594 | pomgnt1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Xenopus tropicalis (tropical clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0007738 | Uncontrolled eye movements |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0007770 | Hypoplasia of the retina |
| HP:0008045 | Enlarged flash visual evoked potentials |
| HP:0010864 | Intellectual disability, severe |
| HP:0011344 | Severe global developmental delay |
| HP:0011800 | Midface retrusion |
