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congenital muscular dystrophy-dystroglycanopathy type A2
Summary
- Synonym
-
- MDDGA2
- Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111240
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003457 | EMG abnormality |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0100022 | Abnormality of movement |
| HP:0100543 | Cognitive impairment |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000158 | Macroglossia |
| HP:0000204 | Cleft upper lip |
| HP:0000540 | Hypermetropia |
| HP:0000557 | Buphthalmos |
| 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 |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B |
| 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 |
