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congenital muscular dystrophy-dystroglycanopathy type A9
Summary
- Synonym
-
- MDDGA9
- Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111232
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q14118 | Dystroglycan 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002415 | Leukodystrophy |
| HP:0002421 | Poor head control |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0007361 | Abnormal pons morphology |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0010864 | Intellectual disability, severe |
| HP:0011003 | High myopia |
| HP:0011197 | EEG with focal spike waves |
| HP:0011344 | Severe global developmental delay |
| HP:0000028 | Cryptorchidism |
