Pseudo-Torch Syndrome 2 (PTORCH2)

Pseudo-Torch Syndrome 2, also known as ptorch2, is related to aicardi-goutieres syndrome 1 and pseudo-torch syndrome 1. An important gene associated with Pseudo-Torch Syndrome 2 is USP18 (Ubiquitin Specific Peptidase 18). Affiliated tissues include brain and liver, and related phenotypes are respiratory insufficiency and fetal distress