Aicardi-Goutieres Syndrome 5 (AGS5)

Aicardi-Goutieres Syndrome 5, 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 5 is SAMHD1 (SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1). Affiliated tissues include skin and bone marrow, and related phenotypes are microcephaly and global developmental delay