An inherited encephalopathy, the most severe form of which is characterized by cerebral atrophy, leukodystrophy, intracranial calcifications, and chronic cerebrospinal fluid LYMPHOCYTOSIS. Although AGS presents similarly to in utero viral infection, patients are negative for prenatal infections . MICROCEPHALY and neurologic dysfunction occurs later in infancy. Other abnormalities include THROMBOCYTOPENIA, hepatosplenomegaly, elevated hepatic transaminases, and intermittent fever. Mutations in the TREX1, RNASEH2A, RNASEH2B, and RNASEH2C genes have been identified. OMIM: 225750
Date introduced: June 25, 2010