Witteveen-Kolk Syndrome (WITKOS)

Witteveen-Kolk Syndrome, also known as sin3a-related intellectual disability syndrome due to a point mutation, is related to chromosome 15q24 deletion syndrome and microcephaly. An important gene associated with Witteveen-Kolk Syndrome is SIN3A (SIN3 Transcription Regulator Family Member A), and among its related pathways/superpathways are Assembly of the pre-replicative complex and RNA Polymerase II Transcription Initiation And Promoter Clearance. Affiliated tissues include brain and eye, and related phenotypes are abnormal facial shape and intellectual disability, mild