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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:0000028 | Cryptorchidism |
| HP:0000175 | Cleft palate |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000193 | Bifid uvula |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000411 | Protruding ear |
