Jacobsen Syndrome (JBS)

Jacobsen Syndrome, also known as jacobsen distal 11q deletion syndrome, is related to johanson-blizzard syndrome and thrombocytopenia, paris-trousseau type, and has symptoms including muscle spasticity An important gene associated with Jacobsen Syndrome is JBS (Jacobsen Syndrome). Affiliated tissues include heart and eye, and related phenotypes are intellectual disability and global developmental delay