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Keyword - Aicardi-Goutieres syndrome (KW-0948)

Definition

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
  • Cree encephalitis
  • Pseudo-torch syndrome
  • Pseudotoxoplasmosis syndrome

Category

Disease

Graphical

Aicardi-Goutieres syndromeDisease