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congenital muscular dystrophy-dystroglycanopathy A7
Summary
- Synonym
-
- MDDGA7
- Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111234
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001284 | Areflexia |
| HP:0001302 | Pachygyria |
| HP:0001305 | Dandy-Walker malformation |
| HP:0001321 | Cerebellar hypoplasia |
