Aicardi-Goutieres Syndrome 2 (AGS2)

Aicardi-Goutieres Syndrome 2, 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 2 is RNASEH2B (Ribonuclease H2 Subunit B). Affiliated tissues include skin and bone marrow, and related phenotypes are microcephaly and dystonia