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Repository for lectin-assisted multimodality data
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MIRAGE
megalencephalic leukoencephalopathy with subcortical cysts
Summary
- Synonym
-
- megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome
- vacuolating megalencephalic leukoencephalopathy with subcortical cysts
- Definition
- A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline.
- Super Class
- leukodystrophy
External Links
- Disease Ontology
- DOID:0080315
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P55087 | Aquaporin-4 | |
| Q9NZH0 | G-protein coupled receptor family C group 5 member B |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q640R3 | Hepatic and glial cell adhesion molecule |
