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congenital muscular dystrophy-dystroglycanopathy type A6
Summary
- Synonym
-
- MDDGA6
- Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111242
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 100498555 | large1 | LARGE xylosyl- and glucuronyltransferase 1 | Xenopus tropicalis (tropical clawed frog) | |
| 108704366 | large1.L | LARGE xylosyl- and glucuronyltransferase 1 L homeolog | Xenopus laevis (African clawed frog) | |
| 108712551 | large1.S | LARGE xylosyl- and glucuronyltransferase 1 S homeolog | Xenopus laevis (African clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000545 | Myopia |
| HP:0001276 | Hypertonia |
| HP:0001288 | Gait disturbance |
| HP:0001360 | Holoprosencephaly |
| HP:0001608 | Abnormality of the voice |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002353 | EEG abnormality |
| HP:0002435 | Meningocele |
| HP:0003198 | Myopathy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
