Kaufman Oculocerebrofacial Syndrome (KOS)

Kaufman Oculocerebrofacial Syndrome, also known as oculocerebrofacial syndrome, kaufman type, is related to angelman syndrome and kagami-ogata syndrome. An important gene associated with Kaufman Oculocerebrofacial Syndrome is UBE3B (Ubiquitin Protein Ligase E3B), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include eye and skin, and related phenotypes are intellectual disability and global developmental delay