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Ontology Term : Aicardi-Goutieres syndrome UniProtKeyword

description  Protein 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,
  • Pseudo-torch syndrome,
  • Pseudotoxoplasmosis syndrome,
  • Cree encephalitis
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