Aicardi-Goutieres syndrome (DOID:0050629)
Alliance: disease page
Synonyms: AGS; Cree encephalitis
Alt IDs: OMIM:225750, OMIM:610181, OMIM:610329, OMIM:610333, OMIM:612952, OMIM:615010, OMIM:615846, ICD10CM:G31.8, OMIM:PS225750, ORDO:51
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.