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Aicardi-Goutieres syndrome
Summary
- Synonym
-
- AGS
- Cree encephalitis
- Definition
- A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
- Super Class
- autosomal genetic disease syndrome
External Links
- Disease Ontology
- DOID:0050629
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002119 | Ventriculomegaly |
| HP:0002132 | Porencephalic cyst |
| HP:0002139 | Arrhinencephaly |
| HP:0002187 | Intellectual disability, profound |
| HP:0002313 | Spastic paraparesis |
| HP:0002315 | Headache |
| HP:0002355 | Difficulty walking |
| HP:0002371 | Loss of speech |
| HP:0002376 | Developmental regression |
