Chromosome 3q29 Deletion Syndrome

Chromosome 3q29 Deletion Syndrome, also known as chromosome 3q29 microdeletion syndrome, is related to autism spectrum disorder and microcephaly, and has symptoms including gait ataxia An important gene associated with Chromosome 3q29 Deletion Syndrome is DEL3Q29 (Chromosome 3q29 Microdeletion Syndrome), and among its related pathways/superpathways are 3q29 copy number variation syndrome and CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling. Affiliated tissues include heart and skin, and related phenotypes are intellectual disability and global developmental delay