Term Name: | Aicardi-Goutieres syndrome |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0050629] ( DOID:0050629 ) |