Aicardi-Goutieres Syndrome 4 (AGS4)

Aicardi-Goutieres Syndrome 4, also known as pseudo-torch syndrome, is related to aicardi-goutieres syndrome and pseudo-torch syndrome 2, and has symptoms including seizures, petechiae of skin and muscle spasticity. An important gene associated with Aicardi-Goutieres Syndrome 4 is RNASEH2A (Ribonuclease H2 Subunit A). Affiliated tissues include brain and skin, and related phenotypes are seizure and spasticity