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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:0008736 | Hypoplasia of penis |
| HP:0010508 | Metatarsus valgus |
| HP:0012400 | Abnormal circulating aldolase concentration |
| HP:0002514 | Cerebral calcification |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001290 | Generalized hypotonia |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0003593 | Infantile onset |
| HP:0002878 | Respiratory failure |
