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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:0001522 | Death in infancy |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001558 | Decreased fetal movement |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0007260 | Type II lissencephaly |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002187 | Intellectual disability, profound |
| HP:0001181 | Adducted thumb |
