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congenital muscular dystrophy-dystroglycanopathy type A12
Summary
- Synonym
-
- MDDGA12
- Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111235
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H5K3 | Protein O-mannose kinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001284 | Areflexia |
| HP:0001302 | Pachygyria |
| HP:0001305 | Dandy-Walker malformation |
| HP:0001321 | Cerebellar hypoplasia |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 10329 | RXYLT1 | ribitol xylosyltransferase 1 |
| 10585 | POMT1 | protein O-mannosyltransferase 1 |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 |
| 1605 | DAG1 | dystroglycan 1 |
| 2218 | FKTN | fukutin |
| 29954 | POMT2 | protein O-mannosyltransferase 2 |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
| 729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
| 79147 | FKRP | fukutin related protein |
