TY - JOUR AU - Yi, Zhi AU - Zhang, Ying AU - Song, Zhenfeng AU - Pan, Hong AU - Yang, Chengqing AU - Li, Fei AU - Xue, Jiao AU - Qu, Zhenghai PY - 2020 DA - 2020/07/09 TI - Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability JO - Italian Journal of Pediatrics SP - 95 VL - 46 IS - 1 AB - MED13L-related intellectual disability is a new syndrome that is characterized by intellectual disability (ID), motor developmental delay, speech impairment, hypotonia and facial dysmorphism. Both the MED13L haploinsufficiency mutation and missense mutation were reported to be causative. It has also been reported that patients carrying missense mutations have more frequent epilepsy and show a more severe phenotype. SN - 1824-7288 UR - https://doi.org/10.1186/s13052-020-00847-y DO - 10.1186/s13052-020-00847-y ID - Yi2020 ER -