Table 2.

Infrequent Features Seen in a Cohort of 123 Individuals with Molecularly Confirmed AGS

FeatureNumber of Affected Individuals by Gene
RNASEH2ARNASEH2BRNASEH2CTREX1
Scoliosis0900
Cardiomegaly1014
Abnormal antibody profile0312
Preserved language0600
Demyelinating peripheral neuropathy0211
Congenital glaucoma0012
Micropenis0011
Hypothyroidism0101
Insulin-dependent diabetes mellitus0101
Transitory deficiency of antidiuretic hormone0001

Rice et al [2007b]. Note: This paper was published before it was determined that pathogenic variants in ADAR, IFIH1, and SAMHD1 can cause AGS.

From: Aicardi-Goutières Syndrome

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