" /> Aicardi-goutieres syndrome 2 - CISMeF





Preferred Label : Aicardi-goutieres syndrome 2;

Symbol : AGS2;

CISMeF acronym : AGS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ribonuclease H2, subunit B gene (RNASEH2B, 610326.0001);

Laboratory abnormalities : No evidence of common prenatal infections; Lymphocytosis in the cerebrospinal fluid; Increased interferon-alpha signal;

Prefixed ID : #610181;

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03/05/2025


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