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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:0000518 | Cataract |
| HP:0000556 | Retinal dystrophy |
| HP:0000557 | Buphthalmos |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001344 | Absent speech |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002119 | Ventriculomegaly |
| HP:0002126 | Polymicrogyria |
| HP:0002350 | Cerebellar cyst |
| HP:0002363 | Abnormal brainstem morphology |
