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Keyword Aicardi-Goutieres syndrome

UniProtKB (6) rdf/xml obo
DefinitionProtein which, if defective, causes Aicardi-Goutieres syndrome, a genetic disorder that is phenotypically similar to in utero viral infection. The disease is characterized by severe neurological dysfunction in infancy, leading to progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation and often death in early childhood.
Synonyms AGS
Cree encephalitis
Pseudo-torch syndrome
Pseudotoxoplasmosis syndrome
GraphicalDiseaseAicardi-Goutieres syndrome