ZBTB18 and Global developmental delay: The patient 5, a 18-year-old girl with GDD/ID and dysmorphic signs, presented 29.4 Mb duplication of 1q41-1q44 region, which included 43 morbid OMIM genes (including ZBTB18), a similar CNV being described in other patients, most of them also presenting short stature or associated internal malformations [32–35], features not observed in our patient.