14q32.11 microdeletion including <scp> <i>CALM1</i> </scp> , <scp> <i>TTC7B</i> </scp> , <scp> <i>PSMC1</i> </scp> , and <scp> <i>RPS6KA5</i> </scp> : A new potential cause of developmental and language delay in three unrelated patients

Three unrelated patients with similar microdeletions of chromosome 14q32.11 shared phenotypes including language and developmental delay, four overlapping genes -CALM1, TTC7B, PSMC1, RPS6KA5 have been presented. All are expressed in the brain haploinsufficiency scores, which reflect low tolerance to loss function variation. An insight on region, may influence resulting phenotype has provided. Given three patients' lack normal variation this it was suggested that microdeletion be associated delay.