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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:0002084 | Encephalocele |
| HP:0002187 | Intellectual disability, profound |
| HP:0002282 | Gray matter heterotopia |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003819 | Death in childhood |
| HP:0007260 | Type II lissencephaly |
| HP:0007968 | Remnants of the hyaloid vascular system |
| HP:0008551 | Microtia |
