Aicardi-Goutieres Syndrome 6 (AGS6)

Aicardi-Goutieres Syndrome 6, also known as pseudo-torch syndrome, is related to pseudo-torch syndrome 2 and pseudo-torch syndrome 3, and has symptoms including seizures, petechiae of skin and muscle spasticity. An important gene associated with Aicardi-Goutieres Syndrome 6 is ADAR (Adenosine Deaminase RNA Specific). Affiliated tissues include bone marrow and skin, and related phenotypes are cerebral calcification and severe global developmental delay