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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) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95461 | Xylosyl- and glucuronyltransferase LARGE1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100297 | Increased endomysial connective tissue |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0007063 | Aplasia of the inferior half of the cerebellar vermis |
| HP:0000519 | Developmental cataract |
| HP:0008081 | Pes valgus |
| HP:0012110 | Hypoplasia of the pons |
| HP:0001290 | Generalized hypotonia |
| HP:0006829 | Severe muscular hypotonia |
| HP:0007260 | Type II lissencephaly |
