Aicardi-Goutieres Syndrome (RNASEH2C)

Aicardi-Goutieres syndrome (RNASEH2C-related) is an autosomal recessive disorder caused by pathogenic variants in the gene RNASEH2C. Infants with Aicardi-Goutières syndrome develop normally for several months, but then typically develop encephalopathy in the first year of life. Symptoms include loss of previously acquired developmental milestones, intermittent fever, spasticity, low muscle tone, and seizures. Intelligence ranges from severe intellectual disability to normal intellect. No genotype-phenotype correlation has been reported.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):