12q14 Microdeletion Syndrome

12q14 Microdeletion Syndrome, also known as osteopoikilosis-short stature-intellectual disability syndrome, is related to osteopoikilosis and silver-russell syndrome 1. An important gene associated with 12q14 Microdeletion Syndrome is HMGA2 (High Mobility Group AT-Hook 2), and among its related pathways/superpathways are Packaging Of Telomere Ends and Overlap between signal transduction pathways contributing to LMNA laminopathies. Affiliated tissues include bone and skeletal muscle, and related phenotypes are failure to thrive and global developmental delay