Aicardi-Goutieres syndrome

Term ID

DOID:0050629

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. (3)

References

• GARD:575
• ICD10CM:G31.8
• OMIM:225750
• OMIM:610181
• OMIM:610329
• OMIM:610333
• OMIM:612952
• OMIM:615010
• OMIM:615846
• OMIM:PS225750
• ORDO:51

Ontology

Human Disease   ( DOID:0050629 )