Trichohepatoenteric Syndrome 2 (THES2)

Trichohepatoenteric Syndrome 2, also known as thes2, is related to trichohepatoenteric syndrome 1 and optic disc anomalies with retinal and/or macular dystrophy, and has symptoms including thin, sparse hair An important gene associated with Trichohepatoenteric Syndrome 2 is SKIC2 (SKI2 Subunit Of Superkiller Complex), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and Unfolded Protein Response (UPR). Affiliated tissues include liver, and related phenotypes are hepatomegaly and wide nasal bridge