Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001344 | Absent speech |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002350 | Cerebellar cyst |
| HP:0002363 | Abnormal brainstem morphology |
| 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 |
