A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome

Rajech Sharkia, Abdelnaser Zalan, Azhar Jabareen-Masri, Hazar Zahalka, Muhammad Mahajnah The present study describes two patients with clinical diagnosis of ID, from a consanguineous family in Israel. Whole exome sequencing identified a homozygous missense mutation in the ADAT3 gene. The clinical features of our patients were compared with several cases described in two recently published studies that documented clinical manifestation of […]