Vissers-Bodmer Syndrome (VIBOS)

Vissers-Bodmer Syndrome, also known as vibos, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and hypotonia. An important gene associated with Vissers-Bodmer Syndrome is CNOT1 (CCR4-NOT Transcription Complex Subunit 1). Affiliated tissues include skeletal muscle and brain, and related phenotypes are global developmental delay and delayed speech and language development