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Aicardi-Goutieres syndrome type 3 (AGS3)

Defects in RNASEH2C are the cause of Aicardi-Goutieres syndrome type 3 (AGS3). A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. 

OTHER NAME(S): AGS3 syndrome

ABREVIATION(S):
AGS3

TYPE: microcephaly, mental retardation (MR)

Related patway(s): DNA replication

DNAtraffic protein(s) related to disease: RNASEH2C

OMIM: 610329

Last modification date: Feb. 15, 2012